Variant report

Variant	rs188357479
Chromosome Location	chr12:57915461-57915462
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:133)
CpG islands
(count:0)
Chromatin interactive
region (count:52)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:133 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr12:57915412-57916055	HepG2	liver:	n/a	chr12:57915557-57915570
2	MAX	chr12:57915284-57916825	HepG2	liver:	n/a	chr12:57916339-57916349 chr12:57916084-57916093 chr12:57916730-57916740
3	POLR2A	chr12:57915282-57917210	GM19099	blood:	n/a	n/a
4	CTCF	chr12:57915420-57915570	HAc	cerebellar:	n/a	n/a
5	BRCA1	chr12:57915396-57915572	GM12878	blood:	n/a	n/a
6	CTCF	chr12:57915460-57915610	BJ	skin:	n/a	n/a
7	POLR2A	chr12:57915382-57916341	GM12891	blood:	n/a	n/a
8	POLR2A	chr12:57915317-57916843	GM12878	blood:	n/a	n/a
9	TBL1XR1	chr12:57915372-57916761	K562	blood:	n/a	n/a
10	TCF7L2	chr12:57915231-57916590	PANC-1	pancreas:	n/a	chr12:57916193-57916207
11	POLR2A	chr12:57915388-57915540	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:57915393-57917444	GM19193	blood:	n/a	n/a
13	CTCF	chr12:57915460-57915610	AG04450	lung:	n/a	n/a
14	RAD21	chr12:57915400-57915699	HepG2	liver:	n/a	chr12:57915557-57915570
15	CTCF	chr12:57915460-57915610	HCPEpiC	choroid plexus:	n/a	n/a
16	POLR2A	chr12:57913349-57917243	Raji	blood:	n/a	n/a
17	POLR2A	chr12:57908101-57916508	PANC-1	pancreas:	n/a	n/a
18	CUX1	chr12:57915366-57915524	K562	blood:	n/a	n/a
19	HCFC1	chr12:57915227-57917771	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr12:57912918-57917367	GM12878	blood:	n/a	n/a
21	NR2F2	chr12:57915162-57916655	K562	blood:	n/a	chr12:57916076-57916091
22	POLR2A	chr12:57915371-57916774	GM12891	blood:	n/a	n/a
23	MXI1	chr12:57912772-57916808	IMR90	lung:	n/a	n/a
24	REST	chr12:57915218-57917582	H1-neurons	neurons:	n/a	chr12:57916449-57916458 chr12:57915324-57915338 chr12:57916602-57916615
25	CBX3	chr12:57915347-57916407	K562	blood:	n/a	n/a
26	TBL1XR1	chr12:57915371-57916747	K562	blood:	n/a	n/a
27	CTCF	chr12:57915296-57915720	K562	blood:	n/a	n/a
28	WRNIP1	chr12:57915351-57915482	GM12878	blood:	n/a	n/a
29	POLR2A	chr12:57911713-57919299	SK-N-MC	brain:	n/a	n/a
30	POLR2A	chr12:57915080-57916283	GM12878	blood:	n/a	n/a
31	POLR2A	chr12:57915158-57916797	PANC-1	pancreas:	n/a	n/a
32	TAF1	chr12:57915327-57915785	K562	blood:	n/a	n/a
33	CHD2	chr12:57915410-57916778	HepG2	liver:	n/a	n/a
34	KAP1	chr12:57915369-57916257	HEK293	kidney:	n/a	n/a
35	HEY1	chr12:57914555-57915702	K562	blood:	n/a	n/a
36	BHLHE40	chr12:57915449-57916596	K562	blood:	n/a	n/a
37	HEY1	chr12:57914593-57916521	K562	blood:	n/a	n/a
38	POLR2A	chr12:57914580-57916523	GM12878	blood:	n/a	n/a
39	POLR2A	chr12:57915334-57916341	GM12892	blood:	n/a	n/a
40	POLR2A	chr12:57915373-57915714	HepG2	liver:	n/a	n/a
41	POLR2A	chr12:57912924-57916763	K562	blood:	n/a	n/a
42	POLR2A	chr12:57915289-57915513	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr12:57908382-57921207	K562	blood:	n/a	n/a
44	POLR2A	chr12:57915290-57916805	GM12892	blood:	n/a	n/a
45	POLR2A	chr12:57915430-57917156	GM15510	blood:	n/a	n/a
46	MAX	chr12:57915460-57916402	H1-hESC	embryonic stem cell:	n/a	chr12:57916339-57916349 chr12:57916084-57916093
47	CTCF	chr12:57915360-57915510	HFF-Myc	foreskin:	n/a	n/a
48	CTCF	chr12:57915440-57915590	HRE	kidney:	n/a	n/a
49	MXI1	chr12:57915372-57916822	HepG2	liver:	n/a	n/a
50	MYC	chr12:57915411-57916598	K562	blood:	n/a	chr12:57916339-57916349 chr12:57916084-57916093

No data

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:57117159..57119489-chr12:57914533..57916753,2	K562	blood:
2	chr12:57896559..57899422-chr12:57912129..57915670,4	MCF-7	breast:
3	chr12:57911911..57916321-chr12:58013702..58018076,7	K562	blood:
4	chr12:57912814..57915992-chr12:58164344..58170030,6	K562	blood:
5	chr12:57912789..57915911-chr12:58119258..58122771,4	MCF-7	breast:
6	chr12:57879207..57888227-chr12:57906247..57918451,36	K562	blood:
7	chr12:57849885..57859254-chr12:57908711..57915821,16	K562	blood:
8	chr12:57913785..57915861-chr12:58131130..58132834,2	MCF-7	breast:
9	chr12:57914271..57916098-chr12:58131440..58134732,4	K562	blood:
10	chr12:57909973..57915898-chr12:58127755..58134567,15	K562	blood:
11	chr12:57913428..57916180-chr12:58009743..58011363,2	MCF-7	breast:
12	chr12:57913580..57915686-chr3:186500312..186502115,2	K562	blood:
13	chr12:57482701..57484968-chr12:57912943..57915607,2	K562	blood:
14	chr12:57908910..57916122-chr12:58022622..58031573,17	K562	blood:
15	chr12:57913372..57915977-chr12:58164344..58168645,6	K562	blood:
16	chr12:57914544..57916510-chr12:58137621..58139842,2	MCF-7	breast:
17	chr12:57481972..57484968-chr12:57912943..57915711,3	K562	blood:
18	chr12:57914556..57917935-chr12:58138142..58139921,3	K562	blood:
19	chr12:57915284..57917737-chr12:58135302..58137824,2	K562	blood:
20	chr12:57913753..57916510-chr12:57996799..57998980,2	MCF-7	breast:
21	chr12:57890108..57896575-chr12:57912675..57917509,9	MCF-7	breast:
22	chr12:57914171..57915978-chr17:7477098..7479787,2	K562	blood:
23	chr12:57911754..57916322-chr12:58006406..58010716,5	K562	blood:
24	chr12:57852034..57858739-chr12:57911478..57917144,8	MCF-7	breast:
25	chr12:57822673..57825673-chr12:57914537..57916745,4	K562	blood:
26	chr12:57913915..57915790-chr12:58160271..58161971,2	K562	blood:
27	chr12:57890573..57894514-chr12:57912146..57915649,5	MCF-7	breast:
28	chr12:57912625..57916215-chr12:58016074..58021603,6	K562	blood:
29	chr12:57504297..57506736-chr12:57913264..57915546,2	MCF-7	breast:
30	chr12:57913857..57916876-chr12:58140485..58143986,3	K562	blood:
31	chr12:57082052..57084048-chr12:57915298..57917787,2	K562	blood:
32	chr12:57871719..57874359-chr12:57913952..57915597,2	MCF-7	breast:
33	chr12:57850154..57858218-chr12:57910899..57919538,20	K562	blood:
34	chr12:57914619..57916153-chr12:57984112..57986210,2	K562	blood:
35	chr12:57912759..57917021-chr12:58137187..58141030,5	MCF-7	breast:
36	chr12:57480746..57483234-chr12:57915069..57916762,2	MCF-7	breast:
37	chr12:57914860..57917603-chr12:58144909..58148802,3	K562	blood:
38	chr12:57912866..57916321-chr12:58013594..58015753,4	K562	blood:
39	chr12:57911699..57918406-chr12:58000825..58010019,18	K562	blood:
40	chr12:57889487..57901620-chr12:57907600..57919310,30	K562	blood:
41	chr12:57914797..57916581-chr12:58144797..58147078,2	MCF-7	breast:
42	chr12:57912818..57918945-chr12:58145879..58149998,6	MCF-7	breast:
43	chr12:57880356..57884964-chr12:57910434..57915758,10	MCF-7	breast:
44	chr12:57913091..57915646-chr12:58010883..58013272,4	K562	blood:
45	chr12:57622307..57625065-chr12:57914079..57916302,2	K562	blood:
46	chr12:57912826..57917389-chr12:58135038..58139778,7	K562	blood:
47	chr12:57879869..57888452-chr12:57905809..57918310,36	K562	blood:
48	chr12:57881044..57886958-chr12:57910925..57918058,16	MCF-7	breast:
49	chr12:57022647..57024200-chr12:57914348..57917342,2	MCF-7	breast:
50	chr12:57913089..57916136-chr12:58086816..58089656,3	MCF-7	breast:

No data

Variant related genes	Relation type
MIR616	TF binding region
DDIT3	TF binding region
MBD6	TF binding region
ENSG00000135454	Chromatin interaction
ENSG00000266465	Chromatin interaction
ENSG00000263826	Chromatin interaction
ENSG00000209582	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000179912	Chromatin interaction
ENSG00000037897	Chromatin interaction
ENSG00000110958	Chromatin interaction
ENSG00000139266	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000166908	Chromatin interaction
ENSG00000257499	Chromatin interaction
ENSG00000123329	Chromatin interaction
ENSG00000257921	Chromatin interaction
ENSG00000135506	Chromatin interaction
ENSG00000111012	Chromatin interaction
ENSG00000156976	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000240771	Chromatin interaction
ENSG00000166888	Chromatin interaction
ENSG00000123427	Chromatin interaction
ENSG00000255737	Chromatin interaction
ENSG00000182199	Chromatin interaction
ENSG00000135439	Chromatin interaction
ENSG00000161960	Chromatin interaction
ENSG00000258001	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000178498	Chromatin interaction
ENSG00000111087	Chromatin interaction
ENSG00000224713	Chromatin interaction
ENSG00000196531	Chromatin interaction
ENSG00000076108	Chromatin interaction
ENSG00000135502	Chromatin interaction
ENSG00000135452	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899117	chr12:57811414-57926472	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
2	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	nsv469411	chr12:57844049-57921188	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
8	nsv559032	chr12:57844049-57921188	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
9	nsv559033	chr12:57848639-57946477	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
10	nsv899119	chr12:57851182-57923451	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
11	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
12	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
13	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
14	nsv899120	chr12:57886609-57921188	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
15	nsv559036	chr12:57911212-57916042	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	68 gene(s)	inside rSNPs	n/a
16	esv3429239	chr12:57915210-57918058	Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	41 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57912000-57917600	Active TSS	Psoas Muscle	Psoas
2	chr12:57912400-57918600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:57912800-57915800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr12:57913400-57915600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:57913800-57917400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr12:57914200-57916000	Weak transcription	Small Intestine	intestine
7	chr12:57914400-57915800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:57914400-57916000	Weak transcription	Gastric	stomach
9	chr12:57914400-57916000	Weak transcription	Ovary	ovary
10	chr12:57914600-57915600	Enhancers	NHLF	lung
11	chr12:57914600-57916200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:57914600-57916200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr12:57914600-57916200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:57914600-57916400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr12:57914600-57916400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr12:57914600-57916400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:57914600-57916400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:57914600-57916400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr12:57914800-57915600	Enhancers	Stomach Mucosa	stomach
20	chr12:57914800-57916000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:57914800-57916200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:57914800-57916200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:57914800-57916200	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr12:57914800-57916200	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr12:57914800-57916200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr12:57914800-57916200	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr12:57914800-57916200	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr12:57914800-57916200	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr12:57914800-57916200	Flanking Active TSS	Fetal Heart	heart
30	chr12:57914800-57916200	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr12:57914800-57916200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr12:57914800-57916200	Flanking Active TSS	K562	blood
33	chr12:57914800-57916400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr12:57914800-57916400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr12:57914800-57916400	Flanking Active TSS	Fetal Intestine Large	intestine
36	chr12:57914800-57916400	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr12:57914800-57916400	Flanking Active TSS	Dnd41	blood
38	chr12:57914800-57916400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr12:57915000-57915600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:57915000-57915600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:57915000-57915600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:57915000-57915600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:57915000-57915600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:57915000-57915600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:57915000-57915600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:57915000-57915600	Enhancers	Fetal Intestine Small	intestine
47	chr12:57915000-57915600	Enhancers	Fetal Muscle Leg	muscle
48	chr12:57915000-57915600	Enhancers	Thymus	Thymus
49	chr12:57915000-57915600	Enhancers	A549	lung
50	chr12:57915000-57915600	Enhancers	HSMMtube	muscle

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