Variant report

Variant	rs3211614
Chromosome Location	chr12:58144921-58144922
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:58144100-58147043	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr12:58144509-58146962	K562	blood:	n/a	n/a
3	POLR2A	chr12:58144474-58146332	GM12891	blood:	n/a	n/a
4	POLR2A	chr12:58144170-58146625	Hela-S3	cervix:	n/a	n/a
5	STAT5A	chr12:58144840-58145330	GM12878	blood:	n/a	n/a
6	WRNIP1	chr12:58144572-58146586	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:58144208-58146680	GM18505	blood:	n/a	n/a
8	POLR2A	chr12:58144905-58145030	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr12:58144638-58146721	GM18951	blood:	n/a	n/a
10	POLR2A	chr12:58144414-58146731	GM19099	blood:	n/a	n/a
11	POLR2A	chr12:58144716-58145126	HepG2	liver:	n/a	n/a
12	POLR2A	chr12:58144700-58146677	K562	blood:	n/a	n/a
13	POLR2A	chr12:58144292-58146326	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr12:58144023-58146704	K562	blood:	n/a	n/a
15	POLR2A	chr12:58144790-58145714	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr12:58144401-58146211	U87	brain:	n/a	n/a
17	POLR2A	chr12:58144461-58146735	K562	blood:	n/a	n/a
18	JUND	chr12:58144791-58146763	K562	blood:	n/a	chr12:58145912-58145921 chr12:58145680-58145688 chr12:58145680-58145687
19	POLR2A	chr12:58144044-58146752	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:58144594-58145149	ProgFib	skin:	n/a	n/a
21	POLR2A	chr12:58144636-58146589	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr12:58144138-58146600	K562	blood:	n/a	n/a
23	POLR2A	chr12:58143986-58146704	MCF-7	breast:	n/a	n/a
24	POLR2A	chr12:58143976-58146339	GM12892	blood:	n/a	n/a
25	EP300	chr12:58144390-58147030	SK-N-SH	brain:	n/a	chr12:58145773-58145780 chr12:58146625-58146632 chr12:58145997-58146013 chr12:58146991-58147005
26	POLR2A	chr12:58144678-58146587	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:58144145-58147295	HepG2	liver:	n/a	n/a
28	POLR2A	chr12:58144345-58145108	GM12891	blood:	n/a	n/a
29	POLR2A	chr12:58143933-58146798	GM12891	blood:	n/a	n/a
30	JUN	chr12:58144345-58147068	K562	blood:	n/a	chr12:58145912-58145921 chr12:58145680-58145688 chr12:58145680-58145687
31	POLR2A	chr12:58144142-58146803	U87	brain:	n/a	n/a
32	POLR2A	chr12:58144888-58146666	GM15510	blood:	n/a	n/a
33	POLR2A	chr12:58144156-58146867	PBDE	blood:	n/a	n/a
34	POLR2A	chr12:58144141-58146736	HepG2	liver:	n/a	n/a
35	POLR2A	chr12:58143923-58146757	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr12:58144450-58146609	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:58144710-58146818	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr12:58143934-58145276	K562	blood:	n/a	n/a
39	SIN3AK20	chr12:58144862-58146801	MCF-7	breast:	n/a	n/a
40	POLR2A	chr12:58144772-58146567	PANC-1	pancreas:	n/a	n/a
41	RFX5	chr12:58144702-58146950	IMR90	lung:	n/a	chr12:58146431-58146446 chr12:58146431-58146446 chr12:58146434-58146448 chr12:58146436-58146445 chr12:58146430-58146447 chr12:58146431-58146446
42	HEY1	chr12:58144366-58146314	K562	blood:	n/a	n/a
43	POLR2A	chr12:58144796-58146627	K562	blood:	n/a	n/a
44	POLR2A	chr12:58144531-58146700	GM19193	blood:	n/a	n/a
45	POLR2A	chr12:58144681-58145459	HepG2	liver:	n/a	n/a
46	TBL1XR1	chr12:58144717-58146834	K562	blood:	n/a	n/a
47	ZNF263	chr12:58144910-58146532	HEK293-T-REx	kidney:	n/a	chr12:58146238-58146247 chr12:58146239-58146260
48	GTF2F1	chr12:58144824-58144927	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr12:58144745-58146650	HCT-116	colon:	n/a	n/a
50	POLR2A	chr12:58144333-58146345	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57940172..57943060-chr12:58144511..58146770,2	K562	blood:
2	chr12:57080844..57082659-chr12:58144695..58147272,2	K562	blood:
3	chr12:57853636..57856322-chr12:58144624..58147677,3	K562	blood:
4	chr12:57914797..57916581-chr12:58144797..58147078,2	MCF-7	breast:
5	chr12:57914860..57917603-chr12:58144909..58148802,3	K562	blood:
6	chr12:57853636..57856322-chr12:58144624..58146178,2	K562	blood:
7	chr12:57480031..57482599-chr12:58144777..58147375,2	MCF-7	breast:
8	chr12:57983953..57986282-chr12:58144732..58146492,2	K562	blood:
9	chr12:57911462..57914270-chr12:58144691..58146581,3	MCF-7	breast:
10	chr12:57851728..57854572-chr12:58144859..58146430,2	MCF-7	breast:
11	chr12:57975136..57977432-chr12:58144177..58146349,2	K562	blood:
12	chr12:57983000..57984965-chr12:58144459..58146652,2	MCF-7	breast:
13	chr12:57999383..58001566-chr12:58144554..58147066,2	K562	blood:
14	chr12:57921185..57924132-chr12:58144470..58146639,2	MCF-7	breast:
15	chr12:58144058..58148099-chr12:58238749..58241436,3	K562	blood:
16	chr12:57909291..57914221-chr12:58144639..58148673,6	K562	blood:
17	chr12:57915553..57917499-chr12:58144787..58147876,3	K562	blood:

Variant related genes	Relation type
CDK4	TF binding region
MARCH9	TF binding region
ENSG00000111087	Chromatin interaction
ENSG00000178498	Chromatin interaction
ENSG00000155980	Chromatin interaction
ENSG00000166908	Chromatin interaction
ENSG00000110958	Chromatin interaction
ENSG00000175215	Chromatin interaction
ENSG00000175203	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000166987	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12304123	1.00[EUR][1000 genomes]
rs238527	1.00[ASN][1000 genomes]
rs3211605	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3211607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3211618	1.00[AMR][1000 genomes]
rs3211627	1.00[AMR][1000 genomes]
rs4447215	1.00[AMR][1000 genomes]
rs4760318	1.00[AMR][1000 genomes]
rs4760321	1.00[EUR][1000 genomes]
rs4760322	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760323	1.00[AMR][1000 genomes]
rs4760324	1.00[AMR][1000 genomes]
rs4760328	1.00[AMR][1000 genomes]
rs4760329	1.00[AMR][1000 genomes]
rs4760336	1.00[AMR][1000 genomes]
rs4760338	1.00[AMR][1000 genomes]
rs7307835	1.00[EUR][1000 genomes]
rs73338229	1.00[ASN][1000 genomes]
rs73338231	1.00[ASN][1000 genomes]
rs8176339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176344	1.00[AMR][1000 genomes]
rs8176346	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8176350	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv559045	chr12:58112189-58165085	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer 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	58 gene(s)	inside rSNPs	diseases
5	nsv470296	chr12:58112189-58177292	Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv899123	chr12:58118248-58155023	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv826384	chr12:58124758-58157850	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers 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	39 gene(s)	inside rSNPs	diseases
8	nsv510601	chr12:58130298-58191925	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
9	nsv470297	chr12:58133256-58202419	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
10	nsv826386	chr12:58135303-58150535	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv973963	chr12:58138245-58145482	Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	22 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	chr12:58139400-58145400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:58140400-58145000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:58140400-58145000	Strong transcription	Thymus	Thymus
4	chr12:58143000-58145000	Weak transcription	Small Intestine	intestine
5	chr12:58143200-58145200	Weak transcription	Aorta	Aorta
6	chr12:58143400-58145200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:58143600-58145000	Genic enhancers	Pancreas	Pancrea
8	chr12:58144000-58145400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:58144200-58145000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:58144200-58145000	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr12:58144200-58145000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr12:58144200-58145000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:58144200-58145000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
14	chr12:58144200-58145200	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
15	chr12:58144200-58145200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:58144200-58145200	Genic enhancers	Spleen	Spleen
17	chr12:58144400-58145000	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
18	chr12:58144400-58145000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
19	chr12:58144400-58145000	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:58144400-58145000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:58144400-58145000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:58144400-58145000	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
23	chr12:58144400-58145000	Enhancers	Colonic Mucosa	Colon
24	chr12:58144400-58145000	Genic enhancers	Fetal Heart	heart
25	chr12:58144400-58145000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
26	chr12:58144400-58145000	Transcr. at gene 5' and 3'	Hela-S3	cervix
27	chr12:58144400-58145000	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
28	chr12:58144400-58145200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:58144400-58145200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:58144400-58145200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr12:58144400-58145200	Genic enhancers	Gastric	stomach
32	chr12:58144400-58145200	Enhancers	Right Atrium	heart
33	chr12:58144400-58145200	Transcr. at gene 5' and 3'	K562	blood
34	chr12:58144400-58145200	Transcr. at gene 5' and 3'	NHLF	lung
35	chr12:58144400-58145400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
36	chr12:58144400-58145400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:58144400-58145400	Transcr. at gene 5' and 3'	A549	lung
38	chr12:58144400-58145400	Transcr. at gene 5' and 3'	Dnd41	blood
39	chr12:58144600-58145000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:58144600-58145000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
41	chr12:58144600-58145000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr12:58144600-58145000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:58144600-58145000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:58144600-58145000	Genic enhancers	Liver	Liver
45	chr12:58144600-58145000	Genic enhancers	Brain Angular Gyrus	brain
46	chr12:58144600-58145000	Genic enhancers	Brain Inferior Temporal Lobe	brain
47	chr12:58144600-58145000	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:58144600-58145000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
49	chr12:58144600-58145000	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
50	chr12:58144600-58145000	Weak transcription	Rectal Mucosa Donor 31	rectum

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