Variant report

Variant	rs12111009
Chromosome Location	chr6:26056286-26056287
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:99)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:99 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:83350341..83350861-chr6:26055617..26056485,2	Hela-S3	cervix:
2	chr17:43225554..43226194-chr6:26056147..26056664,2	HCT-116	colon:
3	chr6:26055895..26056560-chr6:99962944..99963777,2	Hela-S3	cervix:
4	chr3:73160111..73160632-chr6:26056043..26056925,2	Hela-S3	cervix:
5	chr6:26055713..26057538-chr6:27839787..27841318,2	MCF-7	breast:
6	chr14:64970690..64971415-chr6:26056192..26057172,2	Hela-S3	cervix:
7	chr12:46765776..46766454-chr6:26056231..26056873,3	Hela-S3	cervix:
8	chr21:34696607..34697162-chr6:26056230..26056833,2	NB4	blood:
9	chr11:65269359..65272329-chr6:26053784..26056482,2	K562	blood:
10	chr6:26054309..26057181-chr6:26284749..26286697,3	MCF-7	breast:
11	chr5:98264846..98265427-chr6:26056184..26056952,2	Hela-S3	cervix:
12	chr10:101380312..101380889-chr6:26056240..26057196,2	Hela-S3	cervix:
13	chr6:26052762..26068184-chr6:26093226..26113078,68	MCF-7	breast:
14	chr6:26054867..26057868-chr6:27113403..27117423,5	K562	blood:
15	chr14:67826638..67827325-chr6:26056238..26056978,2	HCT-116	colon:
16	chr6:26054932..26056773-chr6:26188728..26190968,2	MCF-7	breast:
17	chr6:26055781..26056716-chr6:28554148..28555077,2	Hela-S3	cervix:
18	chr6:26031633..26032323-chr6:26055677..26056386,2	HCT-116	colon:
19	chr6:26054694..26056843-chr6:26595582..26598310,3	MCF-7	breast:
20	chr6:26055873..26057142-chr6:26156132..26157208,3	Hela-S3	cervix:
21	chr16:68268704..68271099-chr6:26055048..26057879,2	MCF-7	breast:
22	chr14:62161851..62162394-chr6:26056023..26056790,2	HCT-116	colon:
23	chr6:13574706..13575566-chr6:26055685..26056294,2	Hela-S3	cervix:
24	chr6:26054713..26056352-chr6:26521136..26524010,2	K562	blood:
25	chr4:103790073..103790585-chr6:26056049..26056795,2	NB4	blood:
26	chr21:46346404..46349719-chr6:26054432..26057685,3	MCF-7	breast:
27	chr19:3535085..3535880-chr6:26055578..26056291,2	Hela-S3	cervix:
28	chr6:26055082..26056690-chr6:26399620..26401268,2	K562	blood:
29	chr17:57934434..57937420-chr6:26054274..26056443,2	MCF-7	breast:
30	chr6:26053512..26063692-chr6:26116837..26127451,29	MCF-7	breast:
31	chr1:210547151..210547696-chr6:26056200..26057150,2	Hela-S3	cervix:
32	chr11:14520791..14521449-chr6:26056018..26056659,2	Hela-S3	cervix:
33	chr16:67062528..67063091-chr6:26056072..26056992,2	Hela-S3	cervix:
34	chr10:70230934..70231833-chr6:26056062..26056673,2	Hela-S3	cervix:
35	chr5:130970410..130971110-chr6:26055563..26056514,2	Hela-S3	cervix:
36	chr3:156534713..156535225-chr6:26056042..26056689,2	Hela-S3	cervix:
37	chr6:26054191..26059059-chr6:27859322..27865313,6	K562	blood:
38	chr6:26054364..26056639-chr6:26519686..26521351,2	K562	blood:
39	chr16:3930664..3931322-chr6:26056036..26056749,2	Hela-S3	cervix:
40	chr4:6675773..6676273-chr6:26055583..26056564,2	Hela-S3	cervix:
41	chr18:61636121..61638697-chr6:26055420..26057457,2	MCF-7	breast:
42	chr6:26054717..26057409-chr6:27111004..27117900,9	K562	blood:
43	chr6:26054953..26059351-chr6:26183267..26187731,5	MCF-7	breast:
44	chr10:75503304..75504184-chr6:26056056..26056795,2	Hela-S3	cervix:
45	chr6:26055472..26057747-chr6:27104934..27107205,2	K562	blood:
46	chr17:56708197..56709987-chr6:26054324..26056663,2	MCF-7	breast:
47	chr16:80871528..80872444-chr6:26056113..26056674,2	Hela-S3	cervix:
48	chr6:26056232..26057928-chr6:26382432..26384674,2	K562	blood:
49	chr14:45602778..45603393-chr6:26055651..26056291,2	Hela-S3	cervix:
50	chr1:113615667..113617631-chr6:26055280..26057308,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227450	Chromatin interaction
ENSG00000105281	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000198799	Chromatin interaction
ENSG00000100554	Chromatin interaction
ENSG00000138346	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000167930	Chromatin interaction
ENSG00000172943	Chromatin interaction
ENSG00000184357	Chromatin interaction
ENSG00000124508	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000134001	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000145623	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000187475	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000158987	Chromatin interaction
ENSG00000182572	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000067955	Chromatin interaction
ENSG00000198558	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000142166	Chromatin interaction
ENSG00000136504	Chromatin interaction
ENSG00000175611	Chromatin interaction
ENSG00000110367	Chromatin interaction
ENSG00000137876	Chromatin interaction
ENSG00000197061	Chromatin interaction
ENSG00000260475	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000145354	Chromatin interaction
ENSG00000188987	Chromatin interaction
ENSG00000005339	Chromatin interaction
ENSG00000212304	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000248489	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000175793	Chromatin interaction
ENSG00000258818	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000214274	Chromatin interaction
ENSG00000188554	Chromatin interaction
ENSG00000182150	Chromatin interaction
ENSG00000176986	Chromatin interaction
ENSG00000249740	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000238198	Chromatin interaction
ENSG00000240875	Chromatin interaction
ENSG00000152795	Chromatin interaction
ENSG00000197697	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000249599	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000232040	Chromatin interaction
ENSG00000197914	Chromatin interaction
ENSG00000123552	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000113739	Chromatin interaction
ENSG00000146109	Chromatin interaction
ENSG00000182872	Chromatin interaction
ENSG00000029363	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000081026	Chromatin interaction
ENSG00000163681	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000142657	Chromatin interaction
ENSG00000147123	Chromatin interaction
ENSG00000228223	Chromatin interaction
ENSG00000151849	Chromatin interaction
ENSG00000100644	Chromatin interaction
ENSG00000204713	Chromatin interaction
ENSG00000142178	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000166484	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000222365	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000199289	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000258982	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000105258	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000105254	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000129083	Chromatin interaction
ENSG00000121104	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000174282	Chromatin interaction
ENSG00000158406	Chromatin interaction
ENSG00000095066	Chromatin interaction
ENSG00000187147	Chromatin interaction
ENSG00000103067	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000155287	Chromatin interaction
ENSG00000166401	Chromatin interaction
ENSG00000108641	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2298091	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs59324656	1.00[ASN][1000 genomes]
rs61735217	0.84[ASN][1000 genomes]
rs9467684	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
4	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
5	nsv1025237	chr6:25874326-26280867	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
6	nsv538163	chr6:25874326-26280867	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
7	nsv432857	chr6:25957109-26072445	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	451 gene(s)	inside rSNPs	diseases
8	nsv1015627	chr6:25973495-26100483	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	447 gene(s)	inside rSNPs	diseases
9	nsv538164	chr6:25973495-26100483	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	447 gene(s)	inside rSNPs	diseases
10	nsv1028456	chr6:25984457-26174993	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	873 gene(s)	inside rSNPs	diseases
11	nsv538165	chr6:25984457-26174993	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	873 gene(s)	inside rSNPs	diseases
12	nsv428137	chr6:25987413-26351920	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1181 gene(s)	inside rSNPs	diseases
13	nsv916992	chr6:25991630-26280921	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1159 gene(s)	inside rSNPs	diseases
14	nsv1028232	chr6:26005449-26319756	Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1171 gene(s)	inside rSNPs	diseases
15	nsv870314	chr6:26008435-26280807	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1151 gene(s)	inside rSNPs	diseases
16	nsv1023457	chr6:26014014-26305407	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1170 gene(s)	inside rSNPs	diseases
17	nsv1025493	chr6:26026870-26223838	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1001 gene(s)	inside rSNPs	diseases
18	nsv1023979	chr6:26026870-26287399	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1113 gene(s)	inside rSNPs	diseases
19	nsv1015782	chr6:26026870-26323895	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1114 gene(s)	inside rSNPs	diseases
20	nsv1018665	chr6:26026870-26352046	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1116 gene(s)	inside rSNPs	diseases
21	nsv1026692	chr6:26027408-26067081	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	363 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26053200-26057400	Active TSS	K562	blood
2	chr6:26053600-26057200	Active TSS	Thymus	Thymus
3	chr6:26054000-26057400	Active TSS	GM12878-XiMat	blood
4	chr6:26054200-26057200	Active TSS	Sigmoid Colon	Sigmoid Colon
5	chr6:26054200-26057400	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr6:26054200-26057400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:26054200-26057400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:26054200-26057400	Active TSS	Brain Anterior Caudate	brain
9	chr6:26054200-26057400	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr6:26054200-26057400	Active TSS	Stomach Smooth Muscle	stomach
11	chr6:26054200-26057400	Active TSS	A549	lung
12	chr6:26054200-26057600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr6:26054200-26057600	Active TSS	H1 Cell Line	embryonic stem cell
14	chr6:26054200-26057600	Active TSS	Colonic Mucosa	Colon
15	chr6:26054400-26056400	Active TSS	Aorta	Aorta
16	chr6:26054400-26057200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:26054400-26057200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:26054400-26057200	Active TSS	HSMM	muscle
19	chr6:26054400-26057400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr6:26054400-26057400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:26054400-26057400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:26054400-26057400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:26054400-26057400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:26054400-26057400	Active TSS	Psoas Muscle	Psoas
25	chr6:26054400-26057400	Active TSS	Right Ventricle	heart
26	chr6:26054400-26057600	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr6:26054400-26057600	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr6:26054400-26057600	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr6:26054400-26057600	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr6:26054400-26057600	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr6:26054400-26057600	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr6:26054400-26057600	Active TSS	Fetal Muscle Trunk	muscle
33	chr6:26054600-26057000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr6:26054600-26057000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr6:26054600-26057200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:26054600-26057200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:26054600-26057200	Active TSS	Esophagus	oesophagus
38	chr6:26054600-26057200	Active TSS	Placenta	Placenta
39	chr6:26054600-26057200	Active TSS	Left Ventricle	heart
40	chr6:26054600-26057200	Active TSS	HSMMtube	muscle
41	chr6:26054600-26057400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:26054600-26057400	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr6:26054600-26057400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:26054600-26057400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr6:26054600-26057400	Active TSS	Fetal Intestine Large	intestine
46	chr6:26054600-26057400	Active TSS	Ovary	ovary
47	chr6:26054600-26057400	Active TSS	Stomach Mucosa	stomach
48	chr6:26054600-26057400	Active TSS	NHLF	lung
49	chr6:26054600-26057600	Active TSS	Fetal Stomach	stomach
50	chr6:26054800-26056800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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