Variant report

Variant	rs6969233
Chromosome Location	chr7:127677336-127677337
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127677017..127677696-chr7:127848182..127849085,2	MCF-7	breast:
2	chr7:127677227..127677888-chr7:127848543..127849469,4	MCF-7	breast:
3	chr7:127677031..127677751-chr7:127849623..127850362,2	MCF-7	breast:
4	chr7:127666110..127669340-chr7:127673259..127677722,5	K562	blood:
5	chr7:127676662..127677653-chr7:127693827..127694449,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs1024910	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11768841	0.82[AMR][1000 genomes]
rs1193331	0.82[AMR][1000 genomes]
rs1193333	0.86[AMR][1000 genomes]
rs1193335	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs124756	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1345509	0.83[JPT][hapmap]
rs2241291	0.90[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2543477	0.83[AMR][1000 genomes]
rs322781	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs322813	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs322816	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322817	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs322819	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs322820	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322821	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs322822	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs322823	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs322824	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs322825	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs322826	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs322827	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs322828	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs322829	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs322830	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs322832	0.92[ASN][1000 genomes]
rs322833	0.92[ASN][1000 genomes]
rs322837	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs322840	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3757753	0.93[ASN][1000 genomes]
rs3757754	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3757759	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757760	0.90[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3757763	0.90[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes]
rs3757771	0.84[AMR][1000 genomes]
rs3779522	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3779523	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3779526	0.83[JPT][hapmap]
rs3779527	0.91[AMR][1000 genomes]
rs3808055	0.93[ASN][1000 genomes]
rs3808056	0.88[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes]
rs3808077	0.81[CHB][hapmap]
rs3808078	0.80[AMR][1000 genomes]
rs3808086	0.82[AMR][1000 genomes]
rs3808088	0.85[CHB][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap];0.80[AMR][1000 genomes]
rs3823995	0.83[JPT][hapmap]
rs62481450	0.80[AMR][1000 genomes]
rs6467155	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6467156	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6973092	0.83[JPT][hapmap]
rs7789322	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9791922	0.80[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	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

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127645000-127684000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:127669400-127726600	Weak transcription	Hela-S3	cervix
3	chr7:127669600-127718200	Weak transcription	A549	lung
4	chr7:127670400-127698800	Weak transcription	Dnd41	blood
5	chr7:127670800-127681400	Weak transcription	HepG2	liver
6	chr7:127672200-127678200	Weak transcription	Liver	Liver
7	chr7:127672200-127681000	Weak transcription	NHEK	skin
8	chr7:127672200-127681400	Weak transcription	NHDF-Ad	bronchial
9	chr7:127672600-127695400	Weak transcription	Aorta	Aorta
10	chr7:127672800-127682200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:127673000-127677600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:127673000-127680800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:127673000-127681200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:127673000-127681800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:127673000-127692600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:127673000-127692800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr7:127673000-127697800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:127673200-127678200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr7:127673200-127680800	Weak transcription	NHLF	lung
20	chr7:127673200-127681000	Weak transcription	HMEC	breast
21	chr7:127673200-127681800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:127673200-127682400	Weak transcription	Lung	lung
23	chr7:127673200-127682400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:127673200-127684000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr7:127673200-127684800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:127673200-127692600	Weak transcription	Right Atrium	heart
27	chr7:127673200-127712000	Weak transcription	Esophagus	oesophagus
28	chr7:127673400-127680600	Weak transcription	Brain Substantia Nigra	brain
29	chr7:127673400-127681000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:127673400-127682200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:127673400-127682400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:127673400-127682400	Weak transcription	Placenta	Placenta
33	chr7:127673400-127684000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:127673400-127684000	Weak transcription	Left Ventricle	heart
35	chr7:127673600-127679200	Weak transcription	Fetal Intestine Large	intestine
36	chr7:127673600-127680800	Weak transcription	Brain Angular Gyrus	brain
37	chr7:127673600-127680800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr7:127673600-127681000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:127673600-127681200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr7:127673600-127681800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr7:127673600-127682400	Weak transcription	Spleen	Spleen
42	chr7:127673600-127692200	Weak transcription	Adipose Nuclei	Adipose
43	chr7:127673600-127692200	Weak transcription	Fetal Muscle Leg	muscle
44	chr7:127673600-127692200	Weak transcription	Gastric	stomach
45	chr7:127673800-127679200	Weak transcription	Fetal Intestine Small	intestine
46	chr7:127673800-127680800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:127673800-127680800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:127673800-127681400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr7:127673800-127682000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:127673800-127703400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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