Variant report

Variant	rs7602766
Chromosome Location	chr2:20250364-20250365
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	ZKSCAN1	chr2:20250024-20250917	Hela-S3	cervix:	n/a	n/a
2	CUX1	chr2:20249981-20250753	GM12878	blood:	n/a	n/a
3	ZNF384	chr2:20249972-20250884	GM12878	blood:	n/a	chr2:20250363-20250371
4	TAF1	chr2:20250346-20252400	H1-hESC	embryonic stem cell:	n/a	n/a
5	SPI1	chr2:20249866-20250409	GM12891	blood:	n/a	chr2:20250133-20250146 chr2:20250135-20250142
6	MYC	chr2:20249886-20250847	K562	blood:	n/a	n/a
7	TEAD4	chr2:20249801-20250730	K562	blood:	n/a	n/a
8	EP300	chr2:20249892-20250426	GM12878	blood:	n/a	chr2:20250130-20250144
9	MXI1	chr2:20249818-20253177	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr2:20249742-20250811	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:20250087-20250894	K562	blood:	n/a	n/a
12	ARID3A	chr2:20249705-20250722	K562	blood:	n/a	n/a
13	REST	chr2:20249044-20253112	H1-neurons	neurons:	n/a	chr2:20250974-20250987 chr2:20251116-20251129 chr2:20251113-20251126 chr2:20252708-20252728 chr2:20251846-20251859 chr2:20251871-20251880
14	RUNX3	chr2:20249950-20250640	GM12878	blood:	n/a	n/a
15	MAFF	chr2:20250159-20250714	HepG2	liver:	n/a	n/a
16	SPI1	chr2:20249661-20250599	GM12878	blood:	n/a	chr2:20250133-20250146 chr2:20250135-20250142 chr2:20249713-20249726
17	RCOR1	chr2:20249874-20250829	K562	blood:	n/a	n/a
18	PML	chr2:20249815-20250711	GM12878	blood:	n/a	n/a
19	EP300	chr2:20249634-20250746	GM12878	blood:	n/a	chr2:20250130-20250144 chr2:20249715-20249724 chr2:20249714-20249728
20	PML	chr2:20249847-20250673	K562	blood:	n/a	n/a
21	BHLHE40	chr2:20249966-20250704	K562	blood:	n/a	n/a
22	POLR2A	chr2:20250165-20252913	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr2:20250011-20250384	K562	blood:	n/a	n/a
24	CHD2	chr2:20249877-20250838	GM12878	blood:	n/a	n/a
25	RAD21	chr2:20250030-20250827	IMR90	lung:	n/a	n/a
26	MYBL2	chr2:20250304-20251012	HepG2	liver:	n/a	n/a
27	STAT3	chr2:20249652-20250549	GM12878	blood:	n/a	n/a
28	POLR2A	chr2:20249848-20250744	K562	blood:	n/a	n/a
29	GATA1	chr2:20249823-20250808	PBDE	blood:	n/a	chr2:20250794-20250804
30	CHD1	chr2:20247605-20252898	IMR90	lung:	n/a	n/a
31	PAX5	chr2:20250360-20250726	GM12878	blood:	n/a	n/a
32	POLR2A	chr2:20249811-20250800	GM12892	blood:	n/a	n/a
33	CHD1	chr2:20250234-20251052	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUND	chr2:20249898-20250885	K562	blood:	n/a	n/a
35	RUNX3	chr2:20249878-20250803	GM12878	blood:	n/a	n/a
36	RCOR1	chr2:20249934-20250686	K562	blood:	n/a	n/a
37	FOS	chr2:20249450-20250372	HUVEC	blood vessel:	n/a	chr2:20249717-20249726
38	POLR2A	chr2:20249848-20252962	H1-hESC	embryonic stem cell:	n/a	n/a
39	NRF1	chr2:20250277-20250657	GM12878	blood:	n/a	n/a
40	TEAD4	chr2:20250274-20251002	HepG2	liver:	n/a	n/a
41	CREB1	chr2:20249909-20250506	GM12878	blood:	n/a	n/a
42	ZNF263	chr2:20249503-20252187	HEK293-T-REx	kidney:	n/a	chr2:20250545-20250554
43	CREB1	chr2:20250320-20252153	HepG2	liver:	n/a	n/a
44	PML	chr2:20249864-20250689	K562	blood:	n/a	n/a
45	RAD21	chr2:20250323-20250872	HepG2	liver:	n/a	n/a
46	ZNF384	chr2:20250288-20250604	K562	blood:	n/a	chr2:20250363-20250371
47	POLR2A	chr2:20249628-20252299	K562	blood:	n/a	n/a
48	RFX5	chr2:20250063-20250724	HepG2	liver:	n/a	chr2:20250390-20250403 chr2:20250389-20250405
49	POLR2A	chr2:20249765-20250492	SK-N-MC	brain:	n/a	n/a
50	CBX3	chr2:20249806-20250828	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:20248476..20251356-chr2:20368246..20369984,2	MCF-7	breast:
2	chr2:20249888..20254017-chr2:20419396..20423263,3	MCF-7	breast:
3	chr2:20208645..20229804-chr2:20247969..20254330,37	MCF-7	breast:
4	chr2:20098680..20101528-chr2:20249865..20251716,2	K562	blood:
5	chr2:20188631..20191521-chr2:20249258..20251143,2	MCF-7	breast:
6	chr2:20100300..20103104-chr2:20249714..20251596,2	MCF-7	breast:
7	chr2:20100261..20103746-chr2:20249026..20255152,7	K562	blood:
8	chr2:20236074..20238598-chr2:20248598..20251526,3	K562	blood:
9	chr2:20249442..20251362-chr2:20288263..20290257,2	K562	blood:
10	chr2:20223805..20226638-chr2:20247959..20250550,2	MCF-7	breast:
11	chr2:20249637..20253449-chr2:20421472..20424385,3	MCF-7	breast:
12	chr2:20155348..20158077-chr2:20248430..20251683,3	MCF-7	breast:
13	chr14:81685801..81687372-chr2:20250284..20251948,2	MCF-7	breast:
14	chr2:20249233..20252415-chr2:20424056..20425890,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223734	TF binding region
ENSG00000118965	Chromatin interaction
ENSG00000183891	Chromatin interaction
ENSG00000132031	Chromatin interaction
ENSG00000227210	Chromatin interaction
ENSG00000165417	Chromatin interaction
ENSG00000271991	Chromatin interaction
ENSG00000115884	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10201596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11096636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406536	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16987337	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16987357	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs16987368	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs16987372	1.00[CEU][hapmap]
rs2881878	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs3731672	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56154480	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56887453	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73222147	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20241600-20250400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:20247400-20252600	Active TSS	Ovary	ovary
3	chr2:20248000-20250400	Flanking Active TSS	HUVEC	blood vessel
4	chr2:20248000-20250600	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr2:20248200-20250600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr2:20248400-20250400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr2:20248400-20250400	Flanking Active TSS	Dnd41	blood
8	chr2:20248400-20252800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:20248400-20252800	Active TSS	Aorta	Aorta
10	chr2:20248600-20251200	Active TSS	Right Atrium	heart
11	chr2:20248600-20252800	Active TSS	Fetal Muscle Leg	muscle
12	chr2:20248600-20252800	Active TSS	Psoas Muscle	Psoas
13	chr2:20248600-20252800	Active TSS	Right Ventricle	heart
14	chr2:20248800-20252400	Active TSS	Fetal Intestine Large	intestine
15	chr2:20248800-20252400	Active TSS	Stomach Smooth Muscle	stomach
16	chr2:20248800-20252800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:20248800-20252800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:20248800-20252800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:20248800-20253000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:20249000-20250600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr2:20249000-20250800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:20249000-20252200	Active TSS	Fetal Thymus	thymus
23	chr2:20249000-20252200	Active TSS	GM12878-XiMat	blood
24	chr2:20249000-20252400	Active TSS	Colon Smooth Muscle	Colon
25	chr2:20249000-20252400	Active TSS	Fetal Lung	lung
26	chr2:20249000-20252400	Active TSS	HSMM	muscle
27	chr2:20249000-20252600	Active TSS	H9 Cell Line	embryonic stem cell
28	chr2:20249000-20252600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:20249000-20252800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr2:20249000-20252800	Active TSS	H1 Cell Line	embryonic stem cell
31	chr2:20249000-20252800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:20249000-20252800	Active TSS	Fetal Kidney	kidney
33	chr2:20249000-20252800	Active TSS	NHDF-Ad	bronchial
34	chr2:20249000-20252800	Active TSS	NHLF	lung
35	chr2:20249000-20253200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:20249200-20250400	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr2:20249200-20250600	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr2:20249200-20251000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr2:20249200-20252200	Active TSS	Fetal Stomach	stomach
40	chr2:20249200-20252600	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr2:20249200-20252600	Active TSS	Colonic Mucosa	Colon
42	chr2:20249200-20252800	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr2:20249200-20252800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:20249200-20252800	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr2:20249200-20252800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:20249200-20252800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:20249200-20252800	Active TSS	Fetal Muscle Trunk	muscle
48	chr2:20249200-20253000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:20249200-20253000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:20249200-20253000	Active TSS	HSMMtube	muscle

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