Variant report

Variant	rs38731
Chromosome Location	chr7:140704702-140704703
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	POLR2A	chr7:140704647-140704806	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:140704276-140705859	K562	blood:	n/a	n/a
3	POLR2A	chr7:140704232-140705149	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140701133..140705248-chr7:140712773..140716152,4	K562	blood:

Variant related genes	Relation type
ENSG00000273081	TF binding region
ENSG00000090263	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10215245	0.89[ASN][1000 genomes]
rs10240888	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1044927	0.95[ASN][1000 genomes]
rs1089264	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10952364	0.82[ASN][1000 genomes]
rs12538296	0.84[ASN][1000 genomes]
rs13234490	0.89[ASN][1000 genomes]
rs13236704	0.89[ASN][1000 genomes]
rs13438609	0.82[EUR][1000 genomes]
rs1476816	0.89[ASN][1000 genomes]
rs1533933	0.89[ASN][1000 genomes]
rs1860720	0.89[ASN][1000 genomes]
rs2079827	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2079978	0.89[ASN][1000 genomes]
rs246739	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2688430	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs38715	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs38717	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs38718	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs38719	1.00[EUR][1000 genomes]
rs38720	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs38722	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs38723	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs38726	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs38730	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38734	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs38736	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs38739	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs38740	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs488795	0.82[ASN][1000 genomes]
rs512509	0.82[ASN][1000 genomes]
rs528957	0.82[ASN][1000 genomes]
rs544081	0.82[ASN][1000 genomes]
rs56347011	0.81[EUR][1000 genomes]
rs569584	0.82[ASN][1000 genomes]
rs58901822	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60164573	0.81[EUR][1000 genomes]
rs62485391	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62485451	0.85[EUR][1000 genomes]
rs62485452	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62485453	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6464217	0.84[ASN][1000 genomes]
rs6464260	0.89[ASN][1000 genomes]
rs6662	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6967214	0.87[ASN][1000 genomes]
rs6971577	0.95[ASN][1000 genomes]
rs7792447	0.89[ASN][1000 genomes]
rs7801518	0.89[ASN][1000 genomes]
rs801117	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs801121	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs801127	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs801155	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017980	chr7:140601863-140721368	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1030195	chr7:140615828-140746345	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1026448	chr7:140636599-140716829	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140698400-140705400	Weak transcription	Fetal Lung	lung
2	chr7:140698600-140713000	Weak transcription	Psoas Muscle	Psoas
3	chr7:140699600-140713800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:140700600-140705600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:140701000-140706600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:140701200-140705600	Weak transcription	Small Intestine	intestine
7	chr7:140701400-140713400	Weak transcription	NHLF	lung
8	chr7:140702000-140704800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr7:140702000-140705200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:140702000-140705400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr7:140702000-140705400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr7:140702000-140707400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:140702000-140709200	Weak transcription	Fetal Kidney	kidney
14	chr7:140702200-140705200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:140702200-140705400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:140702200-140705600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:140702400-140705400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:140702400-140705600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:140702600-140705600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:140702800-140713200	Weak transcription	HSMMtube	muscle
21	chr7:140703000-140704800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:140703000-140705200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr7:140703000-140705400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:140703000-140705600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr7:140703000-140705600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:140703200-140704800	Weak transcription	Fetal Brain Female	brain
27	chr7:140703200-140704800	Weak transcription	Fetal Muscle Leg	muscle
28	chr7:140703200-140705000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr7:140703200-140705200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr7:140703200-140705800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr7:140703200-140709400	Weak transcription	HSMM	muscle
32	chr7:140703200-140713800	Weak transcription	Stomach Mucosa	stomach
33	chr7:140703400-140705000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:140703400-140705000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:140703400-140705000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:140703400-140705200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:140703400-140705200	Weak transcription	Brain Hippocampus Middle	brain
38	chr7:140703400-140705200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr7:140703400-140705600	Weak transcription	Left Ventricle	heart
40	chr7:140703400-140705800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:140703400-140705800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:140703400-140706000	Weak transcription	K562	blood
43	chr7:140703400-140713800	Weak transcription	Gastric	stomach
44	chr7:140703600-140704800	Weak transcription	Primary T cells from cord blood	blood
45	chr7:140703600-140705200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr7:140703600-140705200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:140703600-140705200	Weak transcription	Aorta	Aorta
48	chr7:140703600-140705200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr7:140703600-140705400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:140703600-140705400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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