Variant report

Variant	rs79894197
Chromosome Location	chr12:57522258-57522259
allele	A/C
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	SIN3AK20	chr12:57522204-57522358	HepG2	liver:	n/a	n/a
2	HEY1	chr12:57520762-57522457	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:57520674-57522449	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:57521755-57522346	HUVEC	blood vessel:	n/a	n/a
5	ZBTB7A	chr12:57521052-57523126	ECC-1	luminal epithelium:	n/a	chr12:57522535-57522544 chr12:57523014-57523022 chr12:57522988-57522996
6	MAX	chr12:57520874-57522489	A549	lung:	n/a	chr12:57521653-57521663 chr12:57521582-57521591 chr12:57521685-57521695
7	POLR2A	chr12:57521037-57522363	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr12:57521273-57522403	HUVEC	blood vessel:	n/a	n/a
9	ZBTB7A	chr12:57521355-57522926	K562	blood:	n/a	chr12:57522535-57522544
10	TAF1	chr12:57521835-57523093	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr12:57521914-57523036	H1-hESC	embryonic stem cell:	n/a	n/a
12	NRF1	chr12:57521493-57522393	SK-N-SH	brain:	n/a	chr12:57522131-57522140 chr12:57522131-57522142 chr12:57522128-57522142 chr12:57522133-57522142 chr12:57522131-57522145 chr12:57521684-57521693
13	POLR2A	chr12:57522201-57522381	A549	lung:	n/a	n/a
14	POLR2A	chr12:57522208-57522355	A549	lung:	n/a	n/a
15	MXI1	chr12:57520190-57524232	SK-N-SH	brain:	n/a	n/a
16	RAD21	chr12:57522083-57522345	SK-N-SH_RA	brain:	n/a	chr12:57522107-57522120
17	NRF1	chr12:57521950-57522259	GM12878	blood:	n/a	chr12:57522131-57522140 chr12:57522131-57522142 chr12:57522128-57522142 chr12:57522133-57522142 chr12:57522131-57522145
18	REST	chr12:57521519-57523949	H1-neurons	neurons:	n/a	chr12:57523385-57523395 chr12:57522542-57522555 chr12:57523383-57523397 chr12:57523265-57523278
19	CEBPD	chr12:57521941-57522266	HepG2	liver:	n/a	n/a
20	TCF12	chr12:57520906-57522366	A549	lung:	n/a	n/a
21	MAX	chr12:57522128-57523032	H1-hESC	embryonic stem cell:	n/a	chr12:57522731-57522740
22	POLR2A	chr12:57521128-57522308	MCF-7	breast:	n/a	n/a
23	POLR2A	chr12:57521446-57522389	Gliobla	brain:	n/a	n/a
24	TAF1	chr12:57520731-57522332	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr12:57520745-57524477	U87	brain:	n/a	n/a
26	CEBPD	chr12:57521067-57522492	HepG2	liver:	n/a	n/a
27	POLR2A	chr12:57520913-57522456	HCT-116	colon:	n/a	n/a
28	MAX	chr12:57520746-57522367	ECC-1	luminal epithelium:	n/a	chr12:57521653-57521663 chr12:57521582-57521591 chr12:57521685-57521695
29	POLR2A	chr12:57520955-57522425	HCT-116	colon:	n/a	n/a
30	POLR2A	chr12:57521811-57523117	H1-neurons	neurons:	n/a	n/a
31	MAX	chr12:57520781-57522270	HepG2	liver:	n/a	chr12:57521653-57521663 chr12:57521582-57521591 chr12:57521685-57521695
32	MXI1	chr12:57520727-57522972	IMR90	lung:	n/a	n/a
33	POLR2A	chr12:57521680-57523088	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr12:57521015-57522371	U87	brain:	n/a	n/a
35	POLR2A	chr12:57521427-57522348	HepG2	liver:	n/a	n/a
36	POLR2A	chr12:57520939-57522342	Hela-S3	cervix:	n/a	n/a
37	SMC3	chr12:57519962-57522373	SK-N-SH	brain:	n/a	chr12:57521157-57521171
38	POLR2A	chr12:57521940-57522333	GM12878	blood:	n/a	n/a
39	TAF1	chr12:57521823-57522363	H1-neurons	neurons:	n/a	n/a
40	POLR2A	chr12:57520311-57522946	HepG2	liver:	n/a	n/a
41	MAZ	chr12:57521130-57522407	GM12878	blood:	n/a	chr12:57521653-57521663 chr12:57521582-57521591 chr12:57521685-57521695
42	POLR2A	chr12:57521127-57522268	MCF-7	breast:	n/a	n/a
43	POLR2A	chr12:57522215-57522363	HepG2	liver:	n/a	n/a
44	POLR2A	chr12:57521134-57522297	HEK293	kidney:	n/a	n/a
45	SP1	chr12:57521293-57522343	A549	lung:	n/a	chr12:57521655-57521665 chr12:57521683-57521697 chr12:57521683-57521692 chr12:57521683-57521693 chr12:57521656-57521665 chr12:57521684-57521693 chr12:57521682-57521694 chr12:57521682-57521694 chr12:57521683-57521692 chr12:57521683-57521693 chr12:57521654-57521666 chr12:57521654-57521666
46	POLR2A	chr12:57520807-57523116	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr12:57521147-57522996	ProgFib	skin:	n/a	n/a
48	JUN	chr12:57520178-57522393	K562	blood:	n/a	chr12:57521548-57521557 chr12:57521487-57521497 chr12:57521488-57521497 chr12:57521487-57521496
49	POLR2A	chr12:57520878-57522285	Hela-S3	cervix:	n/a	n/a
50	MAZ	chr12:57520978-57522460	K562	blood:	n/a	chr12:57521653-57521663 chr12:57521582-57521591 chr12:57521685-57521695

No.	Distal block	Cell Line	Cell type
1	chr12:57520592..57523929-chr12:57539571..57544778,8	MCF-7	breast:
2	chr12:57117761..57120217-chr12:57520609..57523242,3	K562	blood:
3	chr12:57504130..57505011-chr12:57521671..57522655,2	Hela-S3	cervix:
4	chr12:57504588..57507979-chr12:57520002..57522760,4	K562	blood:
5	chr12:57482277..57484373-chr12:57520375..57523117,3	MCF-7	breast:
6	chr12:57490642..57492474-chr12:57520251..57522738,2	MCF-7	breast:
7	chr12:57513705..57517929-chr12:57519571..57523661,4	K562	blood:
8	chr12:57520290..57524994-chr12:57525334..57528665,7	K562	blood:
9	chr12:57479977..57484073-chr12:57519609..57523791,10	MCF-7	breast:
10	chr12:57521132..57523355-chr12:57632415..57635225,2	K562	blood:
11	chr12:57520220..57523882-chr12:57558135..57563846,11	MCF-7	breast:
12	chr12:57503926..57506470-chr12:57520172..57522484,3	MCF-7	breast:
13	chr12:57520108..57523293-chr12:57525745..57528597,4	MCF-7	breast:
14	chr12:57520113..57524524-chr12:57557752..57564598,9	MCF-7	breast:
15	chr12:57398801..57400743-chr12:57521280..57524489,3	K562	blood:
16	chr12:57398801..57400719-chr12:57521892..57524489,2	K562	blood:

Variant related genes	Relation type
LRP1	TF binding region
ENSG00000263832	Chromatin interaction
ENSG00000259125	Chromatin interaction
ENSG00000166860	Chromatin interaction
ENSG00000185633	Chromatin interaction
ENSG00000196531	Chromatin interaction
ENSG00000166888	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000123384	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers 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 miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv3361096	chr12:57521435-57523533	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv3321746	chr12:57521935-57524033	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57520400-57524800	Active TSS	Rectal Smooth Muscle	rectum
2	chr12:57520600-57523600	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr12:57520600-57523600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:57520800-57523200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:57520800-57523600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr12:57520800-57523600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr12:57520800-57523800	Active TSS	Brain Hippocampus Middle	brain
8	chr12:57520800-57524000	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr12:57520800-57524000	Active TSS	Fetal Kidney	kidney
10	chr12:57520800-57524800	Active TSS	Right Atrium	heart
11	chr12:57521000-57522600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:57521000-57522600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:57521000-57522600	Active TSS	Fetal Brain Female	brain
14	chr12:57521000-57523400	Active TSS	Aorta	Aorta
15	chr12:57521000-57523400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr12:57521000-57523600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:57521000-57523600	Active TSS	Pancreas	Pancrea
18	chr12:57521000-57523800	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr12:57521000-57523800	Active TSS	Lung	lung
20	chr12:57521000-57525000	Active TSS	Psoas Muscle	Psoas
21	chr12:57521200-57522600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
22	chr12:57521200-57522600	Active TSS	A549	lung
23	chr12:57521200-57522600	Active TSS	Hela-S3	cervix
24	chr12:57521200-57523200	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr12:57521200-57523400	Active TSS	H1 Cell Line	embryonic stem cell
26	chr12:57521200-57523400	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr12:57521200-57523400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:57521200-57523400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:57521200-57523400	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr12:57521200-57523400	Active TSS	Fetal Intestine Large	intestine
31	chr12:57521200-57523400	Active TSS	Placenta Amnion	Placenta Amnion
32	chr12:57521200-57523400	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr12:57521200-57523600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:57521200-57523600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:57521200-57523600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:57521200-57523600	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr12:57521200-57523600	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr12:57521200-57523600	Active TSS	Brain Anterior Caudate	brain
39	chr12:57521200-57523600	Active TSS	Colon Smooth Muscle	Colon
40	chr12:57521200-57523600	Active TSS	Fetal Intestine Small	intestine
41	chr12:57521200-57523600	Active TSS	Stomach Mucosa	stomach
42	chr12:57521200-57523800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr12:57521200-57523800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:57521200-57523800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:57521200-57523800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:57521200-57523800	Active TSS	Esophagus	oesophagus
47	chr12:57521200-57523800	Active TSS	Gastric	stomach
48	chr12:57521200-57523800	Active TSS	HepG2	liver
49	chr12:57521200-57523800	Active TSS	NH-A	brain
50	chr12:57521200-57524200	Active TSS	Ovary	ovary

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