Variant report

Variant	rs6938970
Chromosome Location	chr6:11539072-11539073
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:47291454..47293291-chr6:11538059..11540323,2	MCF-7	breast:
2	chr6:11539069..11540912-chr6:11545787..11548453,2	K562	blood:

Variant related genes	Relation type
ENSG00000105281	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11962387	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11962527	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11963496	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965815	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16871366	1.00[ASN][1000 genomes]
rs17397079	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17397134	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17397448	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17397532	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17476088	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17476123	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17607332	1.00[ASN][1000 genomes]
rs17607642	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17607970	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17608090	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17608111	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17676117	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41270500	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4336440	0.84[EUR][1000 genomes]
rs547448	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55635543	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55657760	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55691332	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55869413	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55902701	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56104474	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56156527	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56382227	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56383603	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58527489	1.00[ASN][1000 genomes]
rs6905551	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6921425	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6936344	0.84[EUR][1000 genomes]
rs72832975	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72833000	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72834704	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72834705	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72834710	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72834714	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72834783	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72834784	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72834785	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72834795	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72834796	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72834797	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72834801	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72834802	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72836604	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72836607	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72836621	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73721733	1.00[ASN][1000 genomes]
rs9461774	1.00[ASN][1000 genomes]
rs9469166	1.00[ASN][1000 genomes]
rs9469222	0.83[AMR][1000 genomes]
rs9469223	0.81[EUR][1000 genomes]
rs9469359	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9986655	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv432848	chr6:11371614-11560114	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv600989	chr6:11509323-11581990	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv3323084	chr6:11535666-11540364	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
6	esv3414525	chr6:11538747-11539246	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11536400-11540400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:11536800-11539200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:11536800-11539200	Active TSS	Psoas Muscle	Psoas
4	chr6:11536800-11539400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr6:11536800-11539400	Active TSS	Fetal Intestine Small	intestine
6	chr6:11536800-11539600	Active TSS	A549	lung
7	chr6:11536800-11540000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr6:11536800-11540400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:11537000-11539200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:11537000-11539200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:11537000-11539200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:11537000-11539200	Active TSS	Brain Substantia Nigra	brain
13	chr6:11537000-11539200	Active TSS	Colonic Mucosa	Colon
14	chr6:11537000-11539200	Active TSS	Colon Smooth Muscle	Colon
15	chr6:11537000-11539200	Active TSS	Fetal Kidney	kidney
16	chr6:11537000-11539200	Active TSS	Left Ventricle	heart
17	chr6:11537000-11539200	Active TSS	Ovary	ovary
18	chr6:11537000-11539200	Active TSS	Right Ventricle	heart
19	chr6:11537000-11539200	Active TSS	NHDF-Ad	bronchial
20	chr6:11537000-11539400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:11537000-11539600	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr6:11537000-11540000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:11537000-11540000	Active TSS	Brain Anterior Caudate	brain
24	chr6:11537000-11540000	Active TSS	Right Atrium	heart
25	chr6:11537000-11540200	Active TSS	Brain Cingulate Gyrus	brain
26	chr6:11537000-11540400	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr6:11537000-11540600	Active TSS	Brain Angular Gyrus	brain
28	chr6:11537200-11539200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:11537200-11539400	Active TSS	HSMMtube	muscle
30	chr6:11537400-11539200	Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr6:11537400-11539200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:11537400-11539200	Active TSS	Aorta	Aorta
33	chr6:11537400-11539200	Active TSS	Fetal Brain Female	brain
34	chr6:11537400-11539200	Active TSS	Fetal Muscle Trunk	muscle
35	chr6:11537400-11539400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:11537400-11539400	Active TSS	Primary T cells from cord blood	blood
37	chr6:11537400-11539400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:11537400-11539400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:11537400-11539400	Active TSS	Fetal Muscle Leg	muscle
40	chr6:11537400-11539400	Active TSS	Fetal Thymus	thymus
41	chr6:11537400-11539400	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr6:11537400-11539400	Active TSS	Rectal Smooth Muscle	rectum
43	chr6:11537400-11539800	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr6:11537400-11540000	Active TSS	Monocytes-CD14+_RO01746	blood
45	chr6:11537400-11540200	Active TSS	Primary monocytes fromperipheralblood	blood
46	chr6:11537400-11543200	Active TSS	GM12878-XiMat	blood
47	chr6:11537600-11539200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:11537600-11539200	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr6:11537600-11539200	Bivalent/Poised TSS	NHEK	skin
50	chr6:11537600-11539400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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