Variant report

Variant	rs2030611
Chromosome Location	chr6:34956806-34956807
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	chr6:34956071..34958018-chr6:34959188..34960981,2	K562	blood:
2	chr6:34937846..34940693-chr6:34953607..34956913,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10807143	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10947533	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10947534	0.93[JPT][hapmap];0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10947535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11755713	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs16895035	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs16895354	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs1737724	0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2395601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2395602	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3734258	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3734259	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs3756859	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs3777750	0.88[JPT][hapmap]
rs3800443	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs3800448	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs3800450	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs3800452	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs3800453	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs3822923	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs56140217	0.85[ASN][1000 genomes]
rs56248791	0.90[ASN][1000 genomes]
rs6457799	0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6913108	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs6918498	0.91[CHB][hapmap];0.93[JPT][hapmap]
rs6941065	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs7740148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7751820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7752468	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs847842	0.82[AFR][1000 genomes]
rs847844	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs847845	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs847861	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs847862	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs9380465	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs9380466	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs9380467	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs9380468	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs9380470	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs9380476	0.93[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs9380481	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9784889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][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	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1033135	chr6:34802652-34957093	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv5257	chr6:34925313-34970101	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34920400-34958600	Weak transcription	Colonic Mucosa	Colon
2	chr6:34925600-34984800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:34926800-34992200	Weak transcription	Small Intestine	intestine
4	chr6:34929400-34963400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr6:34932400-34981800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:34932800-34962400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:34935200-34958800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:34939400-34958600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr6:34939400-34978200	Weak transcription	Psoas Muscle	Psoas
10	chr6:34939400-35016000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:34944600-34967200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr6:34945200-34962200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:34945200-34967200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr6:34947800-34967000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:34948200-34963600	Strong transcription	Fetal Intestine Large	intestine
16	chr6:34948600-34967200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr6:34948800-34963600	Strong transcription	Primary T cells from cord blood	blood
18	chr6:34948800-34963600	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr6:34948800-34964200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr6:34949200-34963200	Strong transcription	Fetal Thymus	thymus
21	chr6:34949200-34963400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:34949200-34963600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr6:34949400-34962800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr6:34949400-34963600	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr6:34949800-34957600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:34949800-34966800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:34950000-34958600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr6:34950000-34963200	Strong transcription	Primary B cells from cord blood	blood
29	chr6:34950200-34958800	Weak transcription	NHLF	lung
30	chr6:34950400-34957800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:34950400-34958400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr6:34950400-34958800	Weak transcription	NH-A	brain
33	chr6:34950600-34957600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr6:34950600-34958800	Weak transcription	NHDF-Ad	bronchial
35	chr6:34950600-34960000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:34950600-34964200	Strong transcription	Primary hematopoietic stem cells	blood
37	chr6:34950800-34960000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:34951000-34959800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:34951200-34960400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:34951400-34961400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr6:34951800-34963600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:34952400-34957600	Strong transcription	NHEK	skin
43	chr6:34953200-34959000	Weak transcription	Aorta	Aorta
44	chr6:34953200-34959800	Weak transcription	Gastric	stomach
45	chr6:34953200-34960000	Weak transcription	Pancreas	Pancrea
46	chr6:34953200-34961000	Weak transcription	Brain Germinal Matrix	brain
47	chr6:34953200-34963400	Weak transcription	GM12878-XiMat	blood
48	chr6:34953800-34957200	Strong transcription	Hela-S3	cervix
49	chr6:34954200-34958600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr6:34954400-34957600	Strong transcription	HUES6 Cell Line	embryonic stem cell

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