Variant report

Variant	rs6968199
Chromosome Location	chr7:127419237-127419238
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127418258..127422061-chr7:127422146..127424884,5	MCF-7	breast:
2	chr7:127416976..127420911-chr7:127427598..127431217,3	K562	blood:
3	chr7:127418147..127421025-chr7:127422773..127424458,2	MCF-7	breast:
4	chr7:127415029..127416902-chr7:127417107..127420144,4	K562	blood:
5	chr7:127414773..127416738-chr7:127417513..127420144,3	K562	blood:

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10215276	0.89[ASN][1000 genomes]
rs10251423	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10251548	0.92[EUR][1000 genomes]
rs10255861	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10260037	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1029927	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1075206	0.81[ASN][1000 genomes]
rs10954163	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11521053	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971935	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11972774	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11976841	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11976946	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11977012	0.85[ASN][1000 genomes]
rs11977915	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11980318	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12531440	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533846	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539728	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540865	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706818	0.81[AFR][1000 genomes]
rs12706819	0.81[AFR][1000 genomes]
rs12706820	0.81[AFR][1000 genomes]
rs13236900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13237048	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246200	0.84[YRI][hapmap]
rs1362268	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs141450	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419969	0.83[ASN][1000 genomes]
rs16885524	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17151241	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151270	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151466	0.94[YRI][hapmap];0.81[AFR][1000 genomes]
rs17716738	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17718395	0.96[ASN][1000 genomes]
rs1860934	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1881084	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2014583	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2016786	0.98[EUR][1000 genomes]
rs2043982	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2119452	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2119453	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2141259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2402866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2402867	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2402870	0.99[EUR][1000 genomes]
rs325440	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325442	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325444	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325445	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325446	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325447	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325451	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs327518	0.85[CHB][hapmap]
rs35121681	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35176520	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35940771	0.99[EUR][1000 genomes]
rs35971861	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779529	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3779530	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808073	1.00[JPT][hapmap]
rs3808087	0.83[ASN][1000 genomes]
rs3808092	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808093	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808095	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808097	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808105	0.85[ASN][1000 genomes]
rs3808106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808107	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808112	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3824000	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs41464647	0.83[YRI][hapmap]
rs4728077	0.85[ASN][1000 genomes]
rs4731376	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4731378	0.98[EUR][1000 genomes]
rs55694225	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56306023	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58583807	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467145	0.98[EUR][1000 genomes]
rs67827668	0.81[AFR][1000 genomes]
rs6948493	1.00[JPT][hapmap]
rs6961381	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963455	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963614	1.00[JPT][hapmap]
rs6969880	0.94[EUR][1000 genomes]
rs712712	0.92[EUR][1000 genomes]
rs712716	1.00[CEU][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes]
rs73234861	0.85[ASN][1000 genomes]
rs73234862	0.85[ASN][1000 genomes]
rs73234880	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73234882	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73234897	0.96[ASN][1000 genomes]
rs73234901	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs741094	0.83[YRI][hapmap]
rs741599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs759843	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7785050	0.95[EUR][1000 genomes]
rs7786041	0.89[ASN][1000 genomes]
rs7797663	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7799882	0.99[EUR][1000 genomes]
rs7810024	0.81[AFR][1000 genomes]
rs887745	1.00[JPT][hapmap]
rs917831	1.00[JPT][hapmap]
rs917832	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs918793	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972088	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs972089	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs972090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127379200-127437400	Weak transcription	Fetal Stomach	stomach
2	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
3	chr7:127393200-127422800	Weak transcription	Fetal Thymus	thymus
4	chr7:127395400-127422200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr7:127395800-127437200	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:127396400-127422200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:127401000-127422000	Weak transcription	Small Intestine	intestine
8	chr7:127401000-127422400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:127401000-127427000	Weak transcription	HepG2	liver
10	chr7:127401000-127447600	Weak transcription	Fetal Intestine Large	intestine
11	chr7:127401000-127447800	Weak transcription	Fetal Intestine Small	intestine
12	chr7:127402800-127422200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:127403800-127433400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:127407400-127419800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr7:127407400-127420200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr7:127407400-127439200	Weak transcription	Primary T cells from cord blood	blood
17	chr7:127407400-127447600	Weak transcription	Dnd41	blood
18	chr7:127407600-127422000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr7:127407600-127428800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr7:127408000-127421000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:127408000-127421000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:127408000-127421800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:127408200-127419600	Weak transcription	Esophagus	oesophagus
24	chr7:127408200-127422200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr7:127408400-127426400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:127408600-127422200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:127409400-127430200	Weak transcription	Liver	Liver
28	chr7:127409600-127422000	Weak transcription	A549	lung
29	chr7:127409600-127422400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:127410200-127422000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:127410200-127425000	Weak transcription	Ovary	ovary
32	chr7:127410200-127432800	Weak transcription	Psoas Muscle	Psoas
33	chr7:127411400-127420400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:127411400-127422200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:127411400-127422600	Weak transcription	Pancreas	Pancrea
36	chr7:127411400-127437200	Weak transcription	Left Ventricle	heart
37	chr7:127411600-127420800	Weak transcription	Colon Smooth Muscle	Colon
38	chr7:127412200-127419800	Weak transcription	GM12878-XiMat	blood
39	chr7:127412400-127420400	Weak transcription	Brain Hippocampus Middle	brain
40	chr7:127412600-127420400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:127413000-127422200	Weak transcription	Primary B cells from cord blood	blood
42	chr7:127414600-127427200	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr7:127414800-127421800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:127415000-127419600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:127415600-127419400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:127416800-127423200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr7:127417400-127419800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:127417400-127422400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:127417400-127422600	Weak transcription	NHEK	skin
50	chr7:127417600-127422000	Weak transcription	HMEC	breast

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