Variant report

Variant	rs6948605
Chromosome Location	chr7:127650884-127650885
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127348587..127349380-chr7:127650287..127651017,2	MCF-7	breast:
2	chr7:127648714..127651621-chr7:127657028..127659226,2	MCF-7	breast:
3	chr7:127643116..127647921-chr7:127647967..127652468,4	K562	blood:
4	chr7:127631936..127634219-chr7:127649404..127651482,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10487499	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487502	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154492	0.83[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155421	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12375023	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531847	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532894	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533765	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12534918	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540357	1.00[ASN][1000 genomes]
rs12706816	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706818	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706819	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12706820	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706821	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706822	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706823	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227201	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13229973	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13231367	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246200	0.84[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246286	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345283	1.00[ASN][1000 genomes]
rs1348103	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362898	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419970	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468701	0.82[EUR][1000 genomes]
rs17151466	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151488	0.84[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151507	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151639	0.94[CEU][hapmap];0.98[EUR][1000 genomes]
rs17151653	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151682	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151707	0.82[CEU][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17676654	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34026100	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34688920	1.00[ASN][1000 genomes]
rs35154268	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41464647	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs55660321	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58489175	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467157	0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67827668	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953231	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959487	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962635	0.83[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73232968	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232972	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238078	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238088	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73239704	0.84[AMR][1000 genomes]
rs741094	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7458839	0.82[EUR][1000 genomes]
rs7785596	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809182	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs7810024	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9649512	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127631200-127655600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:127631800-127660800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:127632600-127657600	Weak transcription	HUVEC	blood vessel
4	chr7:127634200-127657800	Weak transcription	NH-A	brain
5	chr7:127635600-127660600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:127635800-127660600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:127636000-127662400	Weak transcription	NHDF-Ad	bronchial
8	chr7:127636800-127652200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:127637000-127658800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:127637600-127651200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:127637600-127652400	Weak transcription	A549	lung
12	chr7:127637800-127652600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:127638000-127653000	Weak transcription	NHLF	lung
14	chr7:127638200-127652000	Weak transcription	HMEC	breast
15	chr7:127641200-127652400	Weak transcription	Esophagus	oesophagus
16	chr7:127641200-127657000	Weak transcription	Stomach Mucosa	stomach
17	chr7:127641400-127653800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:127641400-127657800	Weak transcription	Osteobl	bone
19	chr7:127641600-127652400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:127641600-127652600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:127641600-127652600	Weak transcription	HSMM	muscle
22	chr7:127641600-127654800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr7:127641600-127657800	Weak transcription	HSMMtube	muscle
24	chr7:127641600-127670400	Weak transcription	Colonic Mucosa	Colon
25	chr7:127643000-127657200	Weak transcription	Hela-S3	cervix
26	chr7:127643400-127651800	Enhancers	Fetal Heart	heart
27	chr7:127643400-127652400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr7:127644000-127660200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:127644000-127668800	Weak transcription	Dnd41	blood
30	chr7:127644000-127670200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr7:127644400-127652400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr7:127644600-127652400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr7:127644800-127667400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr7:127644800-127670800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr7:127645000-127655000	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr7:127645000-127684000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr7:127645200-127652400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr7:127645200-127661800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr7:127645400-127652400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:127645400-127670000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr7:127645600-127651800	Weak transcription	Primary B cells from cord blood	blood
42	chr7:127645800-127652400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr7:127646000-127651600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:127646000-127652400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:127646000-127660400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:127646400-127653600	Strong transcription	Primary T cells from cord blood	blood
47	chr7:127646600-127652200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr7:127646600-127652400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:127646600-127652600	Weak transcription	Fetal Thymus	thymus
50	chr7:127646600-127654400	Weak transcription	Fetal Brain Male	brain

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