Variant report

Variant	rs34660894
Chromosome Location	chr12:57522894-57522895
allele	A/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	TAF1	chr12:57522607-57523064	H1-neurons	neurons:	n/a	n/a
2	TAF1	chr12:57522543-57522945	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZBTB7A	chr12:57521052-57523126	ECC-1	luminal epithelium:	n/a	chr12:57522535-57522544 chr12:57523014-57523022 chr12:57522988-57522996
4	ZBTB7A	chr12:57521355-57522926	K562	blood:	n/a	chr12:57522535-57522544
5	TAF1	chr12:57521835-57523093	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr12:57521914-57523036	H1-hESC	embryonic stem cell:	n/a	n/a
7	TBP	chr12:57522551-57522974	H1-hESC	embryonic stem cell:	n/a	n/a
8	MXI1	chr12:57520190-57524232	SK-N-SH	brain:	n/a	n/a
9	SP1	chr12:57522571-57523089	H1-hESC	embryonic stem cell:	n/a	chr12:57522861-57522875 chr12:57522957-57522966 chr12:57522958-57522967 chr12:57522593-57522603 chr12:57522956-57522968 chr12:57522958-57522967 chr12:57522637-57522651 chr12:57522953-57522967
10	SIN3A	chr12:57522552-57523985	H1-hESC	embryonic stem cell:	n/a	chr12:57523382-57523396
11	REST	chr12:57521519-57523949	H1-neurons	neurons:	n/a	chr12:57523385-57523395 chr12:57522542-57522555 chr12:57523383-57523397 chr12:57523265-57523278
12	REST	chr12:57522714-57522953	SK-N-SH	brain:	n/a	n/a
13	MAX	chr12:57522128-57523032	H1-hESC	embryonic stem cell:	n/a	chr12:57522731-57522740
14	TEAD4	chr12:57522599-57522978	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr12:57520745-57524477	U87	brain:	n/a	n/a
16	POLR2A	chr12:57522570-57522931	U87	brain:	n/a	n/a
17	POLR2A	chr12:57521811-57523117	H1-neurons	neurons:	n/a	n/a
18	MXI1	chr12:57520727-57522972	IMR90	lung:	n/a	n/a
19	POLR2A	chr12:57521680-57523088	H1-neurons	neurons:	n/a	n/a
20	POLR2A	chr12:57522541-57522976	H1-hESC	embryonic stem cell:	n/a	n/a
21	SIN3AK20	chr12:57522383-57522986	H1-hESC	embryonic stem cell:	n/a	n/a
22	TAF1	chr12:57522471-57522922	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr12:57522518-57523052	H1-hESC	embryonic stem cell:	n/a	chr12:57522731-57522740
24	POLR2A	chr12:57520311-57522946	HepG2	liver:	n/a	n/a
25	ZBTB7A	chr12:57522689-57522967	HepG2	liver:	n/a	n/a
26	POLR2A	chr12:57520807-57523116	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr12:57521147-57522996	ProgFib	skin:	n/a	n/a
28	TEAD4	chr12:57522624-57523026	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAZ	chr12:57520612-57524372	IMR90	lung:	n/a	chr12:57521653-57521663 chr12:57521582-57521591 chr12:57522731-57522740 chr12:57523592-57523602 chr12:57521685-57521695
30	POLR2A	chr12:57520710-57524585	U87	brain:	n/a	n/a
31	TCF12	chr12:57522750-57522946	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr12:57522552-57522922	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr12:57522683-57522916	H1-hESC	embryonic stem cell:	n/a	n/a
34	ZBTB7A	chr12:57522383-57523030	K562	blood:	n/a	chr12:57522535-57522544 chr12:57523014-57523022 chr12:57522988-57522996
35	ZBTB7A	chr12:57520824-57523238	ECC-1	luminal epithelium:	n/a	chr12:57522535-57522544 chr12:57523014-57523022 chr12:57522988-57522996
36	JUND	chr12:57522590-57523028	H1-hESC	embryonic stem cell:	n/a	n/a
37	GTF2F1	chr12:57522631-57522960	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr12:57522593-57522936	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr12:57522570-57523124	U87	brain:	n/a	n/a
40	MYC	chr12:57522560-57522907	H1-hESC	embryonic stem cell:	n/a	chr12:57522731-57522740

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	chr12:57482277..57484373-chr12:57520375..57523117,3	MCF-7	breast:
4	chr12:57522726..57524274-chr12:57824100..57825642,2	MCF-7	breast:
5	chr12:57513705..57517929-chr12:57519571..57523661,4	K562	blood:
6	chr12:57520290..57524994-chr12:57525334..57528665,7	K562	blood:
7	chr12:57479977..57484073-chr12:57519609..57523791,10	MCF-7	breast:
8	chr12:57521132..57523355-chr12:57632415..57635225,2	K562	blood:
9	chr12:57520220..57523882-chr12:57558135..57563846,11	MCF-7	breast:
10	chr12:57520108..57523293-chr12:57525745..57528597,4	MCF-7	breast:
11	chr12:57520113..57524524-chr12:57557752..57564598,9	MCF-7	breast:
12	chr12:57398801..57400743-chr12:57521280..57524489,3	K562	blood:
13	chr12:57398801..57400719-chr12:57521892..57524489,2	K562	blood:

Variant related genes	Relation type
STAT6	TF binding region
ENSG00000196531	Chromatin interaction
ENSG00000263832	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000123384	Chromatin interaction
ENSG00000258001	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000185633	Chromatin interaction
ENSG00000166860	Chromatin interaction
ENSG00000179912	Chromatin interaction
ENSG00000166888	Chromatin interaction
ENSG00000259125	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10083191	1.00[AMR][1000 genomes]
rs11172151	1.00[AMR][1000 genomes]
rs11172167	1.00[AMR][1000 genomes]
rs12310527	1.00[AMR][1000 genomes]
rs12310686	1.00[AMR][1000 genomes]
rs12312567	1.00[AMR][1000 genomes]
rs12312780	1.00[AMR][1000 genomes]
rs12315459	1.00[AMR][1000 genomes]
rs12317318	1.00[AMR][1000 genomes]
rs12317897	1.00[AMR][1000 genomes]
rs12319006	1.00[AMR][1000 genomes]
rs12320772	1.00[AMR][1000 genomes]
rs12322158	1.00[AMR][1000 genomes]
rs13377950	1.00[AMR][1000 genomes]
rs17119482	1.00[AMR][1000 genomes]
rs3024944	1.00[AMR][1000 genomes]
rs34000745	1.00[AMR][1000 genomes]
rs35958371	1.00[AMR][1000 genomes]

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:122 , 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	chr12:57521000-57523400	Active TSS	Aorta	Aorta
12	chr12:57521000-57523400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr12:57521000-57523600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:57521000-57523600	Active TSS	Pancreas	Pancrea
15	chr12:57521000-57523800	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr12:57521000-57523800	Active TSS	Lung	lung
17	chr12:57521000-57525000	Active TSS	Psoas Muscle	Psoas
18	chr12:57521200-57523200	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr12:57521200-57523400	Active TSS	H1 Cell Line	embryonic stem cell
20	chr12:57521200-57523400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr12:57521200-57523400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:57521200-57523400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:57521200-57523400	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr12:57521200-57523400	Active TSS	Fetal Intestine Large	intestine
25	chr12:57521200-57523400	Active TSS	Placenta Amnion	Placenta Amnion
26	chr12:57521200-57523400	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr12:57521200-57523600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:57521200-57523600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:57521200-57523600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:57521200-57523600	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr12:57521200-57523600	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr12:57521200-57523600	Active TSS	Brain Anterior Caudate	brain
33	chr12:57521200-57523600	Active TSS	Colon Smooth Muscle	Colon
34	chr12:57521200-57523600	Active TSS	Fetal Intestine Small	intestine
35	chr12:57521200-57523600	Active TSS	Stomach Mucosa	stomach
36	chr12:57521200-57523800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr12:57521200-57523800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:57521200-57523800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:57521200-57523800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:57521200-57523800	Active TSS	Esophagus	oesophagus
41	chr12:57521200-57523800	Active TSS	Gastric	stomach
42	chr12:57521200-57523800	Active TSS	HepG2	liver
43	chr12:57521200-57523800	Active TSS	NH-A	brain
44	chr12:57521200-57524200	Active TSS	Ovary	ovary
45	chr12:57521200-57524200	Active TSS	NHLF	lung
46	chr12:57521200-57524400	Active TSS	Brain Angular Gyrus	brain
47	chr12:57521200-57524400	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr12:57521200-57524400	Active TSS	Left Ventricle	heart
49	chr12:57521200-57524600	Active TSS	Brain Cingulate Gyrus	brain
50	chr12:57521200-57524600	Active TSS	Right Ventricle	heart

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