Variant report

Variant	rs385657
Chromosome Location	chr6:149786822-149786823
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	chr6:149785728..149788361-chr6:149790642..149793612,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11155656	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11155657	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs112225	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12190660	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1737336	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1737337	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1749227	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1768341	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1999970	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2095849	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs367161	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs367812	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs370471	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs372994	0.86[ASN][1000 genomes]
rs373596	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs374616	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs376269	0.80[ASN][1000 genomes]
rs376757	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs377454	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs377532	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs378991	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs381226	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs381793	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs382084	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs382720	0.80[ASN][1000 genomes]
rs383092	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs384163	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs384306	0.80[ASN][1000 genomes]
rs384913	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs385303	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs388335	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs391875	0.80[ASN][1000 genomes]
rs392928	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs392932	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs393713	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs394375	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs395037	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs398159	0.80[ASN][1000 genomes]
rs403419	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs405486	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs407260	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs408451	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs409196	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs410579	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs411091	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs411308	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs416044	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs419562	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs419997	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs425278	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs431362	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs432582	0.80[ASN][1000 genomes]
rs436645	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs437931	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs439369	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs439495	0.80[ASN][1000 genomes]
rs440613	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs450344	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs452586	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs499270	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs543489	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs602010	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs602094	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs677525	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs786749	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs786750	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs786751	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs786757	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs814181	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9485396	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[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	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv470866	chr6:149744632-149806552	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv5533	chr6:149748047-149793072	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription 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	3 gene(s)	inside rSNPs	diseases
4	nsv464076	chr6:149755695-149798835	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv604846	chr6:149755695-149798835	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149769600-149787200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:149772000-149788800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr6:149772600-149787000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:149776200-149789600	Weak transcription	Fetal Thymus	thymus
5	chr6:149776800-149802000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:149778400-149787200	Weak transcription	Spleen	Spleen
7	chr6:149780800-149793400	Weak transcription	Primary T cells from cord blood	blood
8	chr6:149781400-149787000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:149781400-149788800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr6:149781400-149793800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:149782200-149802000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:149783200-149787000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:149783200-149802400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:149783400-149788400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr6:149783400-149789200	Genic enhancers	Primary B cells from peripheral blood	blood
16	chr6:149783800-149793400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr6:149784400-149789600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr6:149784600-149787400	Strong transcription	Fetal Intestine Small	intestine
19	chr6:149784600-149788200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr6:149785000-149787000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:149785200-149792800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:149785600-149788400	Weak transcription	HepG2	liver
23	chr6:149785800-149787000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr6:149785800-149787400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
25	chr6:149785800-149788200	Enhancers	Primary B cells from cord blood	blood
26	chr6:149785800-149789600	Weak transcription	Colon Smooth Muscle	Colon
27	chr6:149785800-149789600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:149785800-149793400	Weak transcription	Hela-S3	cervix
29	chr6:149785800-149794600	Weak transcription	Gastric	stomach
30	chr6:149785800-149794800	Weak transcription	Right Atrium	heart
31	chr6:149786000-149787000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr6:149786000-149787200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr6:149786000-149787200	Weak transcription	Lung	lung
34	chr6:149786000-149788200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr6:149786000-149788600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:149786000-149794200	Weak transcription	Colonic Mucosa	Colon
37	chr6:149786200-149787000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr6:149786200-149787000	Enhancers	GM12878-XiMat	blood
39	chr6:149786200-149788600	Weak transcription	Pancreas	Pancrea
40	chr6:149786200-149789400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr6:149786200-149793400	Weak transcription	Stomach Mucosa	stomach
42	chr6:149786400-149787600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr6:149786400-149789600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:149786800-149787000	Active TSS	Monocytes-CD14+_RO01746	blood
45	chr6:149786800-149787600	Bivalent Enhancer	Fetal Muscle Leg	muscle

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