Variant report

Variant	rs3847124
Chromosome Location	chr7:138191524-138191525
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:138183809..138187798-chr7:138191193..138194471,3	MCF-7	breast:
2	chr7:138190873..138192448-chr7:138192616..138195526,2	K562	blood:
3	chr7:138185727..138188937-chr7:138189429..138192088,3	K562	blood:
4	chr7:138145137..138147359-chr7:138189879..138192079,2	K562	blood:
5	chr7:138185465..138187432-chr7:138190307..138193064,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122779	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10216085	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10216325	0.89[YRI][hapmap]
rs10224459	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10224559	0.89[YRI][hapmap];0.94[AFR][1000 genomes]
rs10226487	0.94[AFR][1000 genomes]
rs10227148	0.88[YRI][hapmap]
rs10231698	0.88[YRI][hapmap];0.94[AFR][1000 genomes]
rs10232597	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10234810	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236859	0.94[AFR][1000 genomes]
rs10237069	0.94[AFR][1000 genomes]
rs10237544	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10237720	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239129	0.87[YRI][hapmap];0.88[AFR][1000 genomes]
rs10239202	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239932	0.88[YRI][hapmap];0.94[AFR][1000 genomes]
rs10240387	0.89[YRI][hapmap]
rs10241288	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10241942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10242105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10243069	0.89[YRI][hapmap];0.94[AFR][1000 genomes]
rs10245088	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10248255	0.89[YRI][hapmap]
rs10248604	0.88[YRI][hapmap];0.94[AFR][1000 genomes]
rs10253989	0.90[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10254440	0.89[YRI][hapmap];0.94[AFR][1000 genomes]
rs10254935	0.91[AFR][1000 genomes]
rs10256094	0.89[YRI][hapmap];0.94[AFR][1000 genomes]
rs10256358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10256619	0.88[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10258403	0.89[YRI][hapmap]
rs10259673	0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10261236	0.82[AFR][1000 genomes]
rs10267577	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10268912	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10272478	0.94[AFR][1000 genomes]
rs10277465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10278741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10281429	0.82[AFR][1000 genomes]
rs10281487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1073255	0.94[AFR][1000 genomes]
rs13438570	0.89[YRI][hapmap];0.94[AFR][1000 genomes]
rs28361932	0.82[AFR][1000 genomes]
rs28380017	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28392567	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28407067	0.94[AFR][1000 genomes]
rs28498774	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28502705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28534820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28584756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28598597	0.94[AFR][1000 genomes]
rs28608602	0.94[AFR][1000 genomes]
rs28673291	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28688534	0.94[AFR][1000 genomes]
rs28694658	0.94[AFR][1000 genomes]
rs28706910	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28707292	0.94[AFR][1000 genomes]
rs28714460	0.82[AFR][1000 genomes]
rs28729263	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28762120	0.91[AFR][1000 genomes]
rs28764878	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28816768	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28822161	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2883144	1.00[AMR][1000 genomes]
rs3847123	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4329204	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6947993	1.00[AMR][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	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr7:138161800-138195800	Weak transcription	Fetal Brain Female	brain
2	chr7:138164000-138199800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:138165000-138192000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:138168000-138196200	Weak transcription	Left Ventricle	heart
5	chr7:138175200-138201200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:138176600-138203600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:138177000-138212600	Weak transcription	Pancreas	Pancrea
8	chr7:138177600-138194600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:138178600-138212200	Weak transcription	NHLF	lung
10	chr7:138180200-138204200	Weak transcription	Brain Substantia Nigra	brain
11	chr7:138182200-138196200	Weak transcription	Spleen	Spleen
12	chr7:138183000-138196400	Weak transcription	Fetal Lung	lung
13	chr7:138183000-138203600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:138184400-138194600	Weak transcription	Gastric	stomach
15	chr7:138184400-138196200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:138184400-138196200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:138184400-138196400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:138184400-138196400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:138184400-138197000	Weak transcription	Aorta	Aorta
20	chr7:138184400-138198600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr7:138184600-138194600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:138184600-138196800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:138184800-138196200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:138184800-138204000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:138185000-138194800	Weak transcription	GM12878-XiMat	blood
26	chr7:138185000-138198600	Weak transcription	Fetal Heart	heart
27	chr7:138186000-138196200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:138186600-138210400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:138187200-138196400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr7:138187200-138196400	Weak transcription	Brain Hippocampus Middle	brain
31	chr7:138187400-138192000	Weak transcription	Ovary	ovary
32	chr7:138187400-138196200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr7:138187400-138197000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr7:138187400-138203800	Weak transcription	Psoas Muscle	Psoas
35	chr7:138187600-138194800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr7:138187600-138197200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr7:138187600-138202600	Weak transcription	Hela-S3	cervix
38	chr7:138187600-138203600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:138187800-138196400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr7:138188000-138196200	Weak transcription	Adipose Nuclei	Adipose
41	chr7:138188000-138197200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:138188000-138204200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr7:138188200-138203800	Weak transcription	Colonic Mucosa	Colon
44	chr7:138188400-138196800	Strong transcription	K562	blood
45	chr7:138188400-138201800	Weak transcription	NH-A	brain
46	chr7:138188400-138209800	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr7:138188600-138193000	Weak transcription	Brain Angular Gyrus	brain
48	chr7:138188600-138193600	Strong transcription	HepG2	liver
49	chr7:138188600-138193800	Strong transcription	Dnd41	blood
50	chr7:138188600-138194600	Strong transcription	HUES6 Cell Line	embryonic stem cell

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