Variant report

Variant	rs1201872
Chromosome Location	chr6:34555709-34555710
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34552512..34555793-chr6:34557456..34559676,3	K562	blood:
2	chr6:34550788..34556388-chr6:34565460..34570894,5	K562	blood:
3	chr6:34553065..34556672-chr6:34559907..34563488,3	K562	blood:
4	chr6:34546025..34550946-chr6:34551862..34556143,7	K562	blood:
5	chr6:34555563..34557937-chr6:34565420..34567500,2	MCF-7	breast:
6	chr6:34552512..34555793-chr6:34557456..34559676,4	K562	blood:
7	chr6:34543365..34546387-chr6:34554474..34557693,3	K562	blood:
8	chr6:34553634..34556369-chr6:34563010..34564695,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196114	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11961041	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11968954	1.00[GIH][hapmap]
rs11968972	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13209544	0.81[CHB][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs16892384	0.88[ASN][1000 genomes]
rs16892386	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs205261	0.81[JPT][hapmap];0.97[ASN][1000 genomes]
rs205262	1.00[CHB][hapmap];0.80[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs205263	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs205264	0.97[ASN][1000 genomes]
rs205265	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs205266	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs205267	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs205284	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34374374	0.97[ASN][1000 genomes]
rs35286877	0.88[ASN][1000 genomes]
rs35987776	0.88[ASN][1000 genomes]
rs36032186	0.95[ASN][1000 genomes]
rs451263	0.90[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs451603	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6457784	0.98[ASN][1000 genomes]
rs6900426	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6908462	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs6909637	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6937428	0.88[ASN][1000 genomes]
rs6941453	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs72900436	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7738377	0.92[ASN][1000 genomes]
rs7743724	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs7748836	0.82[ASN][1000 genomes]
rs7764921	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7765969	0.86[ASN][1000 genomes]
rs9461992	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9461993	0.86[ASN][1000 genomes]
rs9461994	0.88[ASN][1000 genomes]
rs9461997	0.88[ASN][1000 genomes]
rs9469812	0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9469813	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9469814	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9469820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9469822	0.92[ASN][1000 genomes]
rs9469832	0.94[ASN][1000 genomes]
rs9469836	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9469837	0.88[ASN][1000 genomes]
rs9469838	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9469840	0.88[ASN][1000 genomes]
rs9469842	0.88[ASN][1000 genomes]
rs9469843	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv516578	chr6:34483015-34561585	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv885792	chr6:34507311-34607958	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1025472	chr6:34509776-34555969	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv1033534	chr6:34516588-34555969	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv823667	chr6:34533015-34592524	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS 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	14 gene(s)	inside rSNPs	diseases
13	nsv818410	chr6:34538544-34579431	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
14	nsv830640	chr6:34542489-34714677	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
15	esv988873	chr6:34548881-34557080	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1201872	C6orf107	cis	uninvolved skin	skin_eQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34535600-34563200	Weak transcription	A549	lung
2	chr6:34536800-34556600	Weak transcription	Hela-S3	cervix
3	chr6:34546000-34559800	Weak transcription	HSMM	muscle
4	chr6:34547200-34566800	Weak transcription	Aorta	Aorta
5	chr6:34548800-34561400	Weak transcription	Fetal Heart	heart
6	chr6:34549000-34564200	Strong transcription	Fetal Intestine Small	intestine
7	chr6:34549400-34559800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr6:34549400-34564400	Weak transcription	Brain Substantia Nigra	brain
9	chr6:34549600-34557200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr6:34549800-34564200	Strong transcription	Fetal Stomach	stomach
11	chr6:34550200-34557200	Weak transcription	Fetal Kidney	kidney
12	chr6:34551400-34559000	Strong transcription	Primary T cells from cord blood	blood
13	chr6:34552400-34556000	Enhancers	Stomach Mucosa	stomach
14	chr6:34552600-34556000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:34552600-34557000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:34552600-34558400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:34552800-34555800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:34552800-34558000	Strong transcription	Fetal Intestine Large	intestine
19	chr6:34553000-34555800	Genic enhancers	GM12878-XiMat	blood
20	chr6:34553000-34558200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr6:34553000-34558800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr6:34553000-34559600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:34553200-34558600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr6:34553200-34558600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:34553200-34558800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr6:34553200-34559000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr6:34553400-34557200	Weak transcription	Brain Hippocampus Middle	brain
28	chr6:34553400-34558800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr6:34553400-34559200	Strong transcription	HepG2	liver
30	chr6:34553400-34562200	Weak transcription	Small Intestine	intestine
31	chr6:34553400-34570000	Weak transcription	NH-A	brain
32	chr6:34553600-34556000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr6:34553600-34558400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:34553600-34558400	Strong transcription	Thymus	Thymus
35	chr6:34553600-34559600	Weak transcription	Brain Anterior Caudate	brain
36	chr6:34553600-34559600	Weak transcription	Colon Smooth Muscle	Colon
37	chr6:34553600-34566400	Weak transcription	Brain Germinal Matrix	brain
38	chr6:34553800-34556800	Weak transcription	Ovary	ovary
39	chr6:34553800-34558200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr6:34553800-34558400	Strong transcription	Lung	lung
41	chr6:34553800-34558600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:34553800-34558600	Strong transcription	Fetal Muscle Leg	muscle
43	chr6:34553800-34558800	Strong transcription	Liver	Liver
44	chr6:34553800-34562800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr6:34554000-34555800	Weak transcription	Colonic Mucosa	Colon
46	chr6:34554000-34557600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr6:34554000-34557600	Strong transcription	Spleen	Spleen
48	chr6:34554000-34557800	Strong transcription	Fetal Thymus	thymus
49	chr6:34554000-34558400	Weak transcription	Fetal Brain Female	brain
50	chr6:34554000-34573600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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