Variant report

Variant	rs1361937
Chromosome Location	chr7:126989846-126989847
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	POLR2A	chr7:126989707-126990304	K562	blood:	n/a	n/a
2	POLR2A	chr7:126989526-126992006	K562	blood:	n/a	n/a
3	POLR2A	chr7:126989526-126991822	GM12891	blood:	n/a	n/a
4	POLR2A	chr7:126985052-127000124	K562	blood:	n/a	n/a
5	POLR2A	chr7:126989801-126991806	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:126985549..126992875-chr7:127029251..127034121,12	K562	blood:
2	chr7:126986612..126990415-chr7:127030676..127033732,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224138	TF binding region
ENSG00000048405	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10251884	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10272297	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1029358	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1029359	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1029360	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11563648	0.82[AFR][1000 genomes]
rs12706779	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1361938	0.95[YRI][hapmap]
rs1361939	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1361941	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1361944	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1419395	1.00[YRI][hapmap]
rs1419396	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1419397	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1419412	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1419413	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1419415	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1419422	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1557640	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1946106	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2027954	1.00[YRI][hapmap]
rs2040500	1.00[YRI][hapmap]
rs2188182	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2402858	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3944151	0.82[AFR][1000 genomes]
rs4548117	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4731350	1.00[YRI][hapmap]
rs4731351	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6467122	1.00[YRI][hapmap]
rs6957320	1.00[YRI][hapmap]
rs6959198	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6972420	1.00[YRI][hapmap]
rs7779672	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7805194	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs7805256	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs7810990	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs916601	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs951808	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs986585	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526043	chr7:126985158-126998210	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126984400-127000800	Weak transcription	HSMMtube	muscle
2	chr7:126987200-126995400	Weak transcription	Dnd41	blood
3	chr7:126987800-127020600	Weak transcription	Spleen	Spleen
4	chr7:126988200-127001000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:126988400-126990800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:126988400-126991800	Weak transcription	HSMM	muscle
7	chr7:126988400-126993800	Weak transcription	Liver	Liver
8	chr7:126988400-126994600	Weak transcription	K562	blood
9	chr7:126988400-126995200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:126988400-126995200	Weak transcription	HMEC	breast
11	chr7:126988400-126995400	Weak transcription	Primary B cells from cord blood	blood
12	chr7:126988400-126995400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:126988400-126995600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:126988400-126996000	Weak transcription	NHDF-Ad	bronchial
15	chr7:126988400-126996800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr7:126988400-126997000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:126988400-126997000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:126988400-126997000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:126988400-126997000	Weak transcription	Osteobl	bone
20	chr7:126988400-126998800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:126988400-126998800	Weak transcription	Placenta	Placenta
22	chr7:126988400-126999200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:126988400-126999200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:126988400-126999800	Weak transcription	Primary T cells from cord blood	blood
25	chr7:126988400-127000000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr7:126988400-127000000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr7:126988400-127000000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:126988400-127000200	Weak transcription	Adipose Nuclei	Adipose
29	chr7:126988400-127000400	Weak transcription	Hela-S3	cervix
30	chr7:126988400-127000600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:126988400-127000600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:126988400-127000600	Weak transcription	Fetal Intestine Large	intestine
33	chr7:126988400-127000800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr7:126988400-127000800	Weak transcription	Brain Hippocampus Middle	brain
35	chr7:126988400-127000800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr7:126988400-127000800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr7:126988400-127001000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:126988400-127001000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:126988400-127001000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:126988400-127001000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:126988400-127001000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:126988400-127001000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:126988400-127001000	Weak transcription	Aorta	Aorta
44	chr7:126988400-127001000	Weak transcription	Brain Angular Gyrus	brain
45	chr7:126988400-127001000	Weak transcription	Esophagus	oesophagus
46	chr7:126988400-127001000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr7:126988400-127001000	Weak transcription	Fetal Stomach	stomach
48	chr7:126988400-127001000	Weak transcription	Left Ventricle	heart
49	chr7:126988400-127001000	Weak transcription	Lung	lung
50	chr7:126988400-127001000	Weak transcription	Right Ventricle	heart

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