Variant report

Variant	rs6696167
Chromosome Location	chr1:150734079-150734080
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150731143..150734388-chr1:150735639..150737851,3	MCF-7	breast:
2	chr1:150733435..150736065-chr1:150737703..150739768,2	K562	blood:

Variant related genes	Relation type
ENSG00000163131	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10788795	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10888396	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11204689	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11204700	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11204714	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11204715	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11204727	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11576175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12031458	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12032445	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12038403	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12728254	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16840074	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1811698	0.89[ASN][1000 genomes]
rs1932864	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2134688	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3738483	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3754207	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3768017	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3820541	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3820543	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4379678	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4970970	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs533928	0.80[EUR][1000 genomes]
rs55890313	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61817598	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61817599	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61817600	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61817649	0.80[EUR][1000 genomes]
rs6587517	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6661100	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6671703	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6679701	0.83[EUR][1000 genomes]
rs6684611	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6688248	0.80[EUR][1000 genomes]
rs6692277	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72704624	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7517566	0.88[EUR][1000 genomes]
rs7520511	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7520516	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7529204	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7535848	0.80[EUR][1000 genomes]
rs7535975	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[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	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv872417	chr1:150618632-150759979	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv872419	chr1:150699199-150738759	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv1008381	chr1:150721254-150745558	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150704000-150736600	Weak transcription	Fetal Stomach	stomach
2	chr1:150711000-150735600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:150712000-150737800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:150715800-150736200	Weak transcription	Small Intestine	intestine
5	chr1:150716600-150737000	Weak transcription	Pancreas	Pancrea
6	chr1:150720200-150736200	Weak transcription	Colonic Mucosa	Colon
7	chr1:150720600-150737800	Weak transcription	Brain Substantia Nigra	brain
8	chr1:150722400-150737000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:150723000-150738000	Weak transcription	Right Ventricle	heart
10	chr1:150724400-150737800	Weak transcription	Aorta	Aorta
11	chr1:150724600-150736200	Weak transcription	Gastric	stomach
12	chr1:150724600-150736400	Weak transcription	Esophagus	oesophagus
13	chr1:150727800-150734600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:150727800-150736200	Weak transcription	Adipose Nuclei	Adipose
15	chr1:150727800-150736200	Weak transcription	Lung	lung
16	chr1:150727800-150736400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:150727800-150737000	Weak transcription	Thymus	Thymus
18	chr1:150728000-150734600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr1:150729200-150737600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:150729800-150737000	Weak transcription	Spleen	Spleen
21	chr1:150730000-150736200	Weak transcription	Fetal Thymus	thymus
22	chr1:150730600-150735000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:150730600-150735000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr1:150730800-150738000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:150731000-150736200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr1:150731400-150734600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:150732200-150736200	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr1:150732200-150737200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
29	chr1:150732400-150737400	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
30	chr1:150732800-150734200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr1:150733000-150734400	Weak transcription	Primary T cells from cord blood	blood
32	chr1:150733200-150734400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr1:150733200-150734400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:150733200-150734400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:150733200-150734600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:150733200-150735800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:150733200-150736200	Weak transcription	Liver	Liver
38	chr1:150733400-150734200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:150733400-150734400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:150733400-150734400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:150733400-150735600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:150733400-150735600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:150733400-150735600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr1:150733400-150736400	Weak transcription	Stomach Mucosa	stomach
45	chr1:150733600-150734600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:150733600-150735000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:150733800-150734200	Genic enhancers	Primary B cells from cord blood	blood
48	chr1:150733800-150734600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:150733800-150734800	ZNF genes & repeats	GM12878-XiMat	blood
50	chr1:150734000-150734800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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