Variant report

Variant	rs274002
Chromosome Location	chr7:137635292-137635293
allele	C/T
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	NR2F2	chr7:137634824-137635445	MCF-7	breast:	n/a	n/a
2	FOXA2	chr7:137635043-137635472	HepG2	liver:	n/a	chr7:137635420-137635432 chr7:137635428-137635440 chr7:137635424-137635436
3	CUX1	chr7:137634330-137635495	K562	blood:	n/a	n/a
4	TCF7L2	chr7:137635072-137635306	PANC-1	pancreas:	n/a	chr7:137635159-137635175 chr7:137635159-137635173 chr7:137635159-137635175 chr7:137635162-137635171
5	HDAC2	chr7:137635079-137635444	HepG2	liver:	n/a	n/a
6	GATA3	chr7:137634898-137635397	MCF-7	breast:	n/a	n/a
7	MAZ	chr7:137634880-137635317	K562	blood:	n/a	n/a
8	POLR2A	chr7:137632029-137636309	K562	blood:	n/a	n/a
9	RUNX3	chr7:137634932-137635347	GM12878	blood:	n/a	n/a
10	EP300	chr7:137634866-137635409	HepG2	liver:	n/a	n/a
11	TCF7L2	chr7:137634956-137635358	HEK293	kidney:	n/a	chr7:137635159-137635175 chr7:137635159-137635173 chr7:137635159-137635175 chr7:137635162-137635171
12	TCF7L2	chr7:137634801-137635601	MCF-7	breast:	n/a	chr7:137635159-137635175 chr7:137635159-137635173 chr7:137635575-137635582 chr7:137635159-137635175 chr7:137635162-137635171
13	GATA3	chr7:137634949-137635373	T-47D	breast:	n/a	n/a
14	POLR2A	chr7:137635223-137635415	HepG2	liver:	n/a	n/a
15	RCOR1	chr7:137634536-137635370	K562	blood:	n/a	n/a
16	GATA3	chr7:137634548-137635491	MCF-7	breast:	n/a	chr7:137634666-137634675
17	NR2F2	chr7:137634915-137635489	MCF-7	breast:	n/a	n/a
18	SIN3AK20	chr7:137634740-137635549	MCF-7	breast:	n/a	n/a
19	TEAD4	chr7:137634569-137635430	HepG2	liver:	n/a	n/a
20	GATA3	chr7:137634875-137635641	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:137633836..137636789-chr7:137637124..137639935,5	MCF-7	breast:
2	chr7:137635084..137637925-chr7:137650642..137652343,2	MCF-7	breast:
3	chr7:137634203..137636594-chr7:137683571..137686182,2	K562	blood:
4	chr7:137634525..137637267-chr7:137652549..137655097,2	MCF-7	breast:
5	chr7:137633876..137635550-chr7:137637244..137638780,2	MCF-7	breast:
6	chr7:137632725..137635704-chr7:137642617..137645023,3	MCF-7	breast:
7	chr7:137618371..137620481-chr7:137634472..137636377,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237243	TF binding region
ENSG00000182158	Chromatin interaction
ENSG00000237243	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs110595	0.84[ASN][1000 genomes]
rs112417	0.96[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs273975	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs273976	0.83[ASN][1000 genomes]
rs273977	1.00[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs273978	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs273979	1.00[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs273980	1.00[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs273981	0.96[CEU][hapmap];0.93[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.84[ASN][1000 genomes]
rs273983	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs273984	0.96[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs273985	0.85[CHB][hapmap]
rs273986	0.84[ASN][1000 genomes]
rs273987	1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs273988	0.82[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs273989	0.96[CEU][hapmap];0.93[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.84[ASN][1000 genomes]
rs273990	0.96[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs273991	1.00[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs273992	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs273994	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs273995	1.00[CEU][hapmap];0.93[CHB][hapmap];0.85[CHD][hapmap];0.98[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.84[ASN][1000 genomes]
rs273996	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs273998	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs273999	0.82[ASN][1000 genomes]
rs274000	0.85[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs274001	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs274003	0.89[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs274004	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs274005	0.81[JPT][hapmap]
rs274007	0.85[CEU][hapmap];0.85[GIH][hapmap]
rs274008	0.81[JPT][hapmap]
rs274009	0.81[JPT][hapmap]
rs274010	0.81[JPT][hapmap]
rs274012	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs9886131	0.81[JPT][hapmap]

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	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137615600-137635600	Weak transcription	Hela-S3	cervix
2	chr7:137618200-137637200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:137621200-137638000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:137621400-137651800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr7:137622000-137643000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr7:137622200-137636600	Weak transcription	Esophagus	oesophagus
7	chr7:137622200-137638200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:137622200-137643200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr7:137622400-137638400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:137625800-137637200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:137625800-137638200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:137626000-137637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:137626000-137637000	Weak transcription	NHEK	skin
14	chr7:137626000-137646200	Weak transcription	HMEC	breast
15	chr7:137626400-137637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:137626400-137637400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:137627400-137638200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:137628200-137637800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:137628600-137637200	Weak transcription	Colonic Mucosa	Colon
20	chr7:137628800-137636400	Weak transcription	Ovary	ovary
21	chr7:137628800-137636600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:137628800-137638600	Weak transcription	HUVEC	blood vessel
23	chr7:137629000-137638000	Weak transcription	Adipose Nuclei	Adipose
24	chr7:137629200-137637000	Weak transcription	Fetal Stomach	stomach
25	chr7:137629200-137638000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:137629200-137638000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:137629400-137636600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr7:137629400-137636800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:137629400-137637000	Weak transcription	Fetal Lung	lung
30	chr7:137629400-137637200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:137629400-137637200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr7:137629400-137637200	Weak transcription	HSMM	muscle
33	chr7:137629400-137637400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:137629400-137637400	Weak transcription	HSMMtube	muscle
35	chr7:137629400-137637600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr7:137629400-137637800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:137629400-137638000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:137629400-137638000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:137629400-137649600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:137630800-137638000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:137630800-137640200	Enhancers	Fetal Intestine Large	intestine
42	chr7:137631000-137638000	Weak transcription	Brain Angular Gyrus	brain
43	chr7:137631800-137635400	Enhancers	Small Intestine	intestine
44	chr7:137631800-137639600	Enhancers	Stomach Mucosa	stomach
45	chr7:137631800-137643000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr7:137632000-137636400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:137632000-137640200	Enhancers	Duodenum Mucosa	Duodenum
48	chr7:137632400-137636400	Weak transcription	Fetal Muscle Leg	muscle
49	chr7:137632400-137637000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr7:137632800-137636000	Enhancers	Brain Hippocampus Middle	brain

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