Variant report

Variant	rs10176233
Chromosome Location	chr2:37311493-37311494
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	chr2:37310981-37312286	SK-N-SH	brain:	n/a	n/a
2	SIN3AK20	chr2:37310721-37312125	MCF-7	breast:	n/a	n/a
3	REST	chr2:37311048-37312065	A549	lung:	n/a	n/a
4	MAX	chr2:37310787-37312103	HepG2	liver:	n/a	n/a
5	MXI1	chr2:37310017-37312964	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr2:37310961-37311955	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr2:37311026-37311939	GM18951	blood:	n/a	n/a
8	MTA3	chr2:37310887-37312337	GM12878	blood:	n/a	n/a
9	EP300	chr2:37311143-37312023	A549	lung:	n/a	chr2:37311632-37311639
10	GABPA	chr2:37311413-37311691	GM12878	blood:	n/a	chr2:37311521-37311530 chr2:37311656-37311670 chr2:37311656-37311667 chr2:37311658-37311667 chr2:37311543-37311554 chr2:37311519-37311530 chr2:37311543-37311552 chr2:37311543-37311557 chr2:37311653-37311667 chr2:37311519-37311533 chr2:37311656-37311665 chr2:37311540-37311554
11	POLR2A	chr2:37310950-37312000	K562	blood:	n/a	n/a
12	POLR2A	chr2:37311106-37311953	GM19099	blood:	n/a	n/a
13	HMGN3	chr2:37310971-37311850	K562	blood:	n/a	n/a
14	MAX	chr2:37310921-37312085	Hela-S3	cervix:	n/a	n/a
15	CEBPD	chr2:37311372-37311746	HepG2	liver:	n/a	n/a
16	TAF1	chr2:37310997-37311992	ECC-1	luminal epithelium:	n/a	n/a
17	ETS1	chr2:37310907-37311597	K562	blood:	n/a	n/a
18	CEBPB	chr2:37311224-37311941	K562	blood:	n/a	n/a
19	TAF1	chr2:37311311-37311807	SK-N-SH	brain:	n/a	n/a
20	E2F4	chr2:37311135-37311796	MCF10A-Er-Src	breast:	n/a	chr2:37311544-37311553 chr2:37311520-37311529 chr2:37311657-37311666
21	MXI1	chr2:37310996-37312045	K562	blood:	n/a	n/a
22	RUNX3	chr2:37310825-37312188	GM12878	blood:	n/a	n/a
23	TAF1	chr2:37311334-37311839	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr2:37310844-37311947	K562	blood:	n/a	n/a
25	MYC	chr2:37310984-37311900	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr2:37311119-37311954	HUVEC	blood vessel:	n/a	n/a
27	FOXM1	chr2:37310907-37311623	GM12878	blood:	n/a	n/a
28	SIN3AK20	chr2:37310912-37312096	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr2:37311160-37311885	HCT-116	colon:	n/a	n/a
30	ATF2	chr2:37311016-37311844	GM12878	blood:	n/a	n/a
31	HEY1	chr2:37311232-37311808	HepG2	liver:	n/a	n/a
32	MAX	chr2:37310910-37311809	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr2:37310882-37311908	GM12878	blood:	n/a	n/a
34	SMARCB1	chr2:37310942-37311959	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr2:37311091-37311975	Gliobla	brain:	n/a	n/a
36	TAF1	chr2:37311279-37311517	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr2:37310894-37311944	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr2:37311069-37312146	HepG2	liver:	n/a	n/a
39	EGR1	chr2:37311301-37311924	K562	blood:	n/a	chr2:37311520-37311529 chr2:37311657-37311666 chr2:37311544-37311553 chr2:37311375-37311384
40	YY1	chr2:37310911-37311918	GM12878	blood:	n/a	chr2:37311766-37311780
41	ETS1	chr2:37310904-37311853	K562	blood:	n/a	chr2:37311632-37311642 chr2:37311620-37311633
42	POLR2A	chr2:37311223-37312091	K562	blood:	n/a	n/a
43	CEBPB	chr2:37311287-37311739	H1-hESC	embryonic stem cell:	n/a	n/a
44	TEAD4	chr2:37310940-37311611	H1-hESC	embryonic stem cell:	n/a	n/a
45	SIN3A	chr2:37310818-37311975	GM12878	blood:	n/a	n/a
46	MAZ	chr2:37310987-37312111	Hela-S3	cervix:	n/a	n/a
47	TBP	chr2:37311006-37311897	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr2:37311125-37311970	ECC-1	luminal epithelium:	n/a	n/a
49	CBX3	chr2:37310899-37312321	K562	blood:	n/a	n/a
50	GABPA	chr2:37311217-37311931	K562	blood:	n/a	chr2:37311521-37311530 chr2:37311656-37311670 chr2:37311656-37311667 chr2:37311658-37311667 chr2:37311543-37311554 chr2:37311519-37311530 chr2:37311543-37311552 chr2:37311543-37311557 chr2:37311653-37311667 chr2:37311519-37311533 chr2:37311656-37311665 chr2:37311540-37311554

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:37311445-37311495	MCF-7	breast:	n/a
2	chr2:37311473-37311523	AG04449	skin:	fetal
3	chr2:37311473-37311523	Caco-2	colon:	n/a
4	chr2:37311473-37311523	NHDF-neo	bronchial:	n/a
5	chr2:37311445-37311495	PrEC	prostate:	n/a
6	chr2:37311445-37311495	HEEpiC	esophagus:	n/a
7	chr2:37311473-37311523	PrEC	prostate:	n/a
8	chr2:37311445-37311495	U87	brain:	n/a
9	chr2:37311473-37311523	SK-N-SH_RA	brain:	n/a
10	chr2:37311473-37311523	Hepatocyte	liver:	n/a
11	chr2:37311473-37311523	AG10803	skin:	n/a
12	chr2:37311473-37311523	HRPEpiC	eye:	n/a
13	chr2:37311445-37311495	HEK293	kidney:	embryo
14	chr2:37311445-37311495	HMEC	breast:	n/a
15	chr2:37311473-37311523	NB4	blood:	n/a
16	chr2:37311445-37311495	Caco-2	colon:	n/a
17	chr2:37311445-37311495	HPAEpiC	pulmonary alveolar:	n/a
18	chr2:37311445-37311495	GM19239	blood:	n/a
19	chr2:37311473-37311523	GM12878	blood:	n/a
20	chr2:37311445-37311495	Jurkat	blood:	n/a
21	chr2:37311473-37311523	GM06990	blood:	n/a
22	chr2:37311445-37311495	NH-A	brain:	n/a
23	chr2:37311445-37311495	PFSK-1	brain:	n/a
24	chr2:37311473-37311523	U87	brain:	n/a
25	chr2:37311445-37311495	K562	blood:	n/a
26	chr2:37311473-37311523	LNCaP	prostate:	n/a
27	chr2:37311445-37311495	HRCEpiC	kidney:	n/a
28	chr2:37311445-37311495	A549	lung:	n/a
29	chr2:37311473-37311523	RPTEC	kidney:	n/a
30	chr2:37311473-37311523	HIPEpiC	eye:	n/a
31	chr2:37311445-37311495	SKMC	muscle:	n/a
32	chr2:37311473-37311523	HEEpiC	esophagus:	n/a
33	chr2:37311445-37311495	AG04450	lung:	fetal
34	chr2:37311445-37311495	HCF	heart:	n/a
35	chr2:37311445-37311495	HCPEpiC	choroid plexus:	n/a
36	chr2:37311473-37311523	ovcar-3	ovarian:	n/a
37	chr2:37311473-37311523	T-47D	breast:	n/a
38	chr2:37311473-37311523	SK-N-MC	brain:	n/a
39	chr2:37311473-37311523	HNPCEpiC	eye:	n/a
40	chr2:37311445-37311495	H1-hESC	embryonic stem cell:	embryo
41	chr2:37311473-37311523	IMR90	lung:	fetal
42	chr2:37311445-37311495	HUVEC	blood vessel:	n/a
43	chr2:37311473-37311523	GM12892	blood:	n/a
44	chr2:37311473-37311523	PFSK-1	brain:	n/a
45	chr2:37311445-37311495	AG10803	skin:	n/a
46	chr2:37311445-37311495	Hepatocyte	liver:	n/a
47	chr2:37311445-37311495	HepG2	liver:	n/a
48	chr2:37311473-37311523	CMK	blood:	n/a
49	chr2:37311473-37311523	ProgFib	skin:	n/a
50	chr2:37311473-37311523	H1-hESC	embryonic stem cell:	embryo

No.	Distal block	Cell Line	Cell type
1	chr2:37192443..37195662-chr2:37309226..37313144,4	K562	blood:
2	chr2:37311381..37312260-chr8:26434556..26435089,2	Hela-S3	cervix:
3	chr2:37303145..37307773-chr2:37309967..37312516,4	MCF-7	breast:
4	chr2:37311074..37311574-chr7:100026079..100026796,2	Hela-S3	cervix:
5	chr2:37311131..37313325-chr2:37314182..37316886,3	MCF-7	breast:
6	chr2:37310057..37313374-chr2:37313742..37317078,6	K562	blood:

Variant related genes	Relation type
GPATCH11	TF binding region
HEATR5B	TF binding region
HEATR5B	CpG island
GPATCH11	CpG island
ENSG00000078487	Chromatin interaction
ENSG00000092964	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000152133	Chromatin interaction
ENSG00000008869	Chromatin interaction
ENSG00000115808	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10084315	0.84[EUR][1000 genomes]
rs10176303	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs10188586	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs10202693	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10211667	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12465097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12466249	0.84[EUR][1000 genomes]
rs12469391	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12470942	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12474977	0.95[EUR][1000 genomes]
rs13398178	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13399537	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13424255	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13425123	1.00[EUR][1000 genomes]
rs13426400	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17020185	0.80[YRI][hapmap]
rs2307469	0.95[EUR][1000 genomes]
rs4648182	1.00[CEU][hapmap]
rs4648184	1.00[CEU][hapmap]
rs4648203	1.00[CEU][hapmap]
rs4648228	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4648233	0.89[EUR][1000 genomes]
rs6718647	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs6732075	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs9631047	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 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	chr2:37308800-37313200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:37310200-37312400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:37310200-37313000	Active TSS	Right Atrium	heart
4	chr2:37310400-37312000	Active TSS	Brain Cingulate Gyrus	brain
5	chr2:37310400-37312000	Active TSS	Pancreas	Pancrea
6	chr2:37310400-37312200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:37310400-37312400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr2:37310400-37312400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:37310400-37312600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:37310400-37312600	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr2:37310400-37312600	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr2:37310400-37312600	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr2:37310400-37312600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:37310400-37312600	Active TSS	GM12878-XiMat	blood
15	chr2:37310600-37311800	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr2:37310600-37312000	Active TSS	H1 Cell Line	embryonic stem cell
17	chr2:37310600-37312000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:37310600-37312000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:37310600-37312000	Active TSS	Brain Angular Gyrus	brain
20	chr2:37310600-37312000	Active TSS	Brain Anterior Caudate	brain
21	chr2:37310600-37312000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:37310600-37312000	Active TSS	Fetal Heart	heart
23	chr2:37310600-37312000	Active TSS	Fetal Intestine Small	intestine
24	chr2:37310600-37312000	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr2:37310600-37312000	Active TSS	Stomach Smooth Muscle	stomach
26	chr2:37310600-37312000	Active TSS	HMEC	breast
27	chr2:37310600-37312000	Active TSS	HSMM	muscle
28	chr2:37310600-37312000	Active TSS	HSMMtube	muscle
29	chr2:37310600-37312000	Active TSS	NHLF	lung
30	chr2:37310600-37312200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:37310600-37312200	Active TSS	Primary B cells from peripheral blood	blood
32	chr2:37310600-37312200	Active TSS	Primary T cells fromperipheralblood	blood
33	chr2:37310600-37312200	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr2:37310600-37312200	Active TSS	Fetal Brain Female	brain
35	chr2:37310600-37312200	Active TSS	Fetal Intestine Large	intestine
36	chr2:37310600-37312200	Active TSS	Fetal Kidney	kidney
37	chr2:37310600-37312200	Active TSS	Fetal Lung	lung
38	chr2:37310600-37312200	Active TSS	Fetal Muscle Leg	muscle
39	chr2:37310600-37312200	Active TSS	Fetal Thymus	thymus
40	chr2:37310600-37312200	Active TSS	NHDF-Ad	bronchial
41	chr2:37310600-37312400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:37310600-37312400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:37310600-37312400	Active TSS	Aorta	Aorta
44	chr2:37310600-37312400	Active TSS	Colonic Mucosa	Colon
45	chr2:37310600-37312400	Active TSS	Fetal Muscle Trunk	muscle
46	chr2:37310600-37312400	Active TSS	Fetal Stomach	stomach
47	chr2:37310600-37312400	Active TSS	Right Ventricle	heart
48	chr2:37310600-37312400	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr2:37310600-37312400	Active TSS	A549	lung
50	chr2:37310600-37312600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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