Variant report

Variant	rs7557159
Chromosome Location	chr2:37416959-37416960
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	CTCF	chr2:37416820-37416970	AG04450	lung:	n/a	n/a
2	FOSL2	chr2:37416863-37417396	SK-N-SH	brain:	n/a	chr2:37417159-37417168 chr2:37417159-37417166 chr2:37417158-37417169 chr2:37417160-37417171
3	SMC3	chr2:37416917-37417267	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr2:37416800-37417090	HPF	lung:	n/a	n/a
5	CTCF	chr2:37416860-37417010	A549	lung:	n/a	n/a
6	MAX	chr2:37416879-37417316	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr2:37416920-37417070	HRE	kidney:	n/a	n/a
8	RAD21	chr2:37416931-37417227	HepG2	liver:	n/a	n/a
9	FOXA1	chr2:37416839-37417297	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:37416957-37417370	U87	brain:	n/a	n/a
11	POLR2A	chr2:37416513-37417279	H1-hESC	embryonic stem cell:	n/a	n/a
12	JUND	chr2:37416943-37417314	HepG2	liver:	n/a	chr2:37417159-37417168 chr2:37417159-37417166 chr2:37417157-37417168 chr2:37417158-37417169 chr2:37417160-37417171
13	MYC	chr2:37416941-37417309	MCF10A-Er-Src	breast:	n/a	n/a
14	CTCF	chr2:37416880-37417030	HCM	heart:	n/a	n/a
15	CTCF	chr2:37416920-37417070	BJ	skin:	n/a	n/a
16	CTCF	chr2:37416940-37417090	HCFaa	heart:	n/a	n/a
17	MYC	chr2:37416594-37418025	NB4	blood:	n/a	n/a
18	SP1	chr2:37416829-37417322	A549	lung:	n/a	n/a
19	REST	chr2:37416853-37417203	PFSK-1	brain:	n/a	chr2:37417077-37417090
20	KAP1	chr2:37416884-37417778	U2OS	brain:	n/a	n/a
21	POLR2A	chr2:37416895-37417003	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr2:37416553-37417370	HCT-116	colon:	n/a	n/a
23	FOXA1	chr2:37416885-37417443	HepG2	liver:	n/a	n/a
24	CTCF	chr2:37416880-37417030	HAc	cerebellar:	n/a	n/a
25	SETDB1	chr2:37416893-37417602	U2OS	brain:	n/a	n/a
26	SP1	chr2:37416836-37417406	A549	lung:	n/a	n/a
27	FOSL2	chr2:37416649-37417418	A549	lung:	n/a	chr2:37417159-37417168 chr2:37417159-37417166 chr2:37417158-37417169 chr2:37417160-37417171
28	CTCF	chr2:37416940-37417090	SAEC	small airway:	n/a	n/a
29	RAD21	chr2:37416955-37417295	Hela-S3	cervix:	n/a	n/a
30	FOSL2	chr2:37416889-37417335	HepG2	liver:	n/a	chr2:37417159-37417168 chr2:37417159-37417166 chr2:37417158-37417169 chr2:37417160-37417171
31	JUND	chr2:37416769-37417491	H1-hESC	embryonic stem cell:	n/a	chr2:37417159-37417168 chr2:37417159-37417166 chr2:37417157-37417168 chr2:37417158-37417169 chr2:37417160-37417171
32	FOSL2	chr2:37416929-37417348	MCF-7	breast:	n/a	chr2:37417159-37417168 chr2:37417159-37417166 chr2:37417158-37417169 chr2:37417160-37417171
33	CEBPB	chr2:37416901-37417806	Hela-S3	cervix:	n/a	n/a
34	FOXA2	chr2:37416892-37417405	A549	lung:	n/a	n/a
35	FOSL1	chr2:37416917-37417325	K562	blood:	n/a	chr2:37417159-37417168 chr2:37417159-37417166 chr2:37417158-37417169 chr2:37417160-37417171
36	FOSL2	chr2:37416806-37417376	HepG2	liver:	n/a	chr2:37417159-37417168 chr2:37417159-37417166 chr2:37417158-37417169 chr2:37417160-37417171
37	CTCF	chr2:37416920-37417070	HMEC	breast:	n/a	n/a
38	RAD21	chr2:37416930-37417248	SK-N-SH_RA	brain:	n/a	n/a
39	POLR2A	chr2:37416791-37417287	HCT-116	colon:	n/a	n/a
40	RCOR1	chr2:37416941-37417252	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr2:37416940-37417090	HL-60	blood:	n/a	n/a
42	CBX3	chr2:37416949-37417303	K562	blood:	n/a	n/a
43	POLR2A	chr2:37416639-37417416	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr2:37416922-37417781	MCF10A-Er-Src	breast:	n/a	chr2:37417268-37417276
45	CTCF	chr2:37416631-37417291	K562	blood:	n/a	chr2:37417085-37417098
46	FOS	chr2:37416923-37417401	MCF10A-Er-Src	breast:	n/a	chr2:37417157-37417168 chr2:37417159-37417168 chr2:37417159-37417166 chr2:37417158-37417169 chr2:37417160-37417171
47	MAX	chr2:37416571-37417995	NB4	blood:	n/a	n/a
48	CTCF	chr2:37416900-37417050	RPTEC	kidney:	n/a	n/a
49	POLR2A	chr2:37416498-37417358	HCT-116	colon:	n/a	n/a
50	CTCF	chr2:37416880-37417030	NHDF-neo	bronchial:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:37416928..37419854-chr2:37422137..37424726,5	K562	blood:
2	chr2:37413518..37417531-chr2:37457528..37460316,5	MCF-7	breast:
3	chr2:37414854..37419854-chr2:37421416..37424726,5	K562	blood:

Variant related genes	Relation type
SULT6B1	TF binding region
ENSG00000233159	Chromatin interaction
ENSG00000003509	Chromatin interaction
ENSG00000218739	Chromatin interaction
ENSG00000138068	Chromatin interaction
ENSG00000115816	Chromatin interaction

rs_ID	r²[population]
rs11569750	1.00[EUR][1000 genomes]
rs11569752	1.00[EUR][1000 genomes]
rs11569754	1.00[CEU][hapmap]
rs17020316	1.00[CEU][hapmap]
rs2111629	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs45493492	1.00[EUR][1000 genomes]
rs45552433	1.00[EUR][1000 genomes]
rs45626240	1.00[EUR][1000 genomes]
rs4648212	1.00[GIH][hapmap]
rs7559829	1.00[ASW][hapmap];0.83[LWK][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37416200-37417400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
2	chr2:37416200-37418800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr2:37416200-37420200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:37416200-37420400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:37416400-37418400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:37416400-37420400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:37416600-37417000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr2:37416600-37417000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:37416600-37417000	Enhancers	Lung	lung
10	chr2:37416600-37417000	Flanking Active TSS	HepG2	liver
11	chr2:37416600-37417200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:37416600-37417200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:37416600-37417200	Enhancers	Pancreas	Pancrea
14	chr2:37416600-37417600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:37416600-37417600	Enhancers	HUVEC	blood vessel
16	chr2:37416600-37417800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:37416600-37417800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:37416600-37417800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:37416600-37417800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:37416600-37417800	Enhancers	NH-A	brain
21	chr2:37416600-37418000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr2:37416600-37418000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:37416600-37418000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:37416600-37418000	Enhancers	Hela-S3	cervix
25	chr2:37416600-37418000	Enhancers	HMEC	breast
26	chr2:37416600-37418000	Enhancers	NHEK	skin
27	chr2:37416600-37418200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:37416600-37418200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:37416600-37418200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:37416600-37418400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:37416600-37418400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr2:37416600-37418400	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr2:37416600-37419000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:37416600-37419000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr2:37416600-37419200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:37416600-37419200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:37416600-37419800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr2:37416600-37420200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr2:37416600-37420200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr2:37416600-37420400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:37416800-37417000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:37416800-37417200	Enhancers	HSMM	muscle
43	chr2:37416800-37417400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:37416800-37417400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:37416800-37417400	Flanking Active TSS	A549	lung
46	chr2:37416800-37417400	Enhancers	Osteobl	bone
47	chr2:37416800-37417800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:37416800-37417800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr2:37416800-37417800	Enhancers	NHLF	lung
50	chr2:37416800-37418000	Enhancers	K562	blood

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