Variant report

Variant	rs11864575
Chromosome Location	chr16:47410953-47410954
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	chr16:47410478..47412557-chr16:47418181..47419832,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10794488	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs11859041	1.00[AMR][1000 genomes]
rs11859248	1.00[AMR][1000 genomes]
rs11859745	1.00[AMR][1000 genomes]
rs11859829	1.00[AMR][1000 genomes]
rs11859924	1.00[AMR][1000 genomes]
rs11860204	1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs11860314	1.00[AMR][1000 genomes]
rs11860378	1.00[AMR][1000 genomes]
rs11860698	1.00[AMR][1000 genomes]
rs11863564	1.00[AMR][1000 genomes]
rs11863702	1.00[AMR][1000 genomes]
rs11863785	1.00[AMR][1000 genomes]
rs11864218	1.00[AMR][1000 genomes]
rs11864400	1.00[AMR][1000 genomes]
rs11865249	1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs11865330	1.00[AMR][1000 genomes]
rs11866253	1.00[AMR][1000 genomes]
rs11866307	1.00[AMR][1000 genomes]
rs12103147	1.00[AMR][1000 genomes]
rs13332639	1.00[AMR][1000 genomes]
rs13336222	1.00[AMR][1000 genomes]
rs13337120	1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs28512495	1.00[AMR][1000 genomes]
rs28654807	1.00[AMR][1000 genomes]
rs28772732	1.00[AMR][1000 genomes]
rs28797865	1.00[AMR][1000 genomes]
rs35691326	1.00[AMR][1000 genomes]
rs9930900	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916572	chr16:47227786-47646103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv933151	chr16:47236330-47646103	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv2757637	chr16:47261512-47595005	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv2758644	chr16:47261512-47606287	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1060396	chr16:47264261-47469345	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv428656	chr16:47316866-47469918	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2758423	chr16:47316866-47606287	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv427983	chr16:47316866-47606287	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv533068	chr16:47354593-47559639	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv833217	chr16:47358148-47527655	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	esv34317	chr16:47390600-47672479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	esv1822041	chr16:47399460-47569732	Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47372000-47426200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr16:47379600-47432000	Weak transcription	Fetal Lung	lung
3	chr16:47382000-47426000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:47387800-47429800	Weak transcription	Right Ventricle	heart
5	chr16:47388600-47414800	Weak transcription	Brain Angular Gyrus	brain
6	chr16:47388600-47445000	Weak transcription	NHEK	skin
7	chr16:47388800-47429800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr16:47389400-47425600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr16:47390000-47430000	Weak transcription	HSMMtube	muscle
10	chr16:47393000-47458200	Weak transcription	Pancreas	Pancrea
11	chr16:47393000-47459000	Weak transcription	NHDF-Ad	bronchial
12	chr16:47396200-47411400	Weak transcription	A549	lung
13	chr16:47396200-47414200	Weak transcription	Psoas Muscle	Psoas
14	chr16:47396200-47425800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr16:47396400-47411200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr16:47397400-47411200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr16:47397800-47458800	Weak transcription	Colonic Mucosa	Colon
18	chr16:47399000-47414800	Weak transcription	Spleen	Spleen
19	chr16:47399200-47420200	Weak transcription	Left Ventricle	heart
20	chr16:47399200-47421400	Weak transcription	K562	blood
21	chr16:47399200-47430000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr16:47399400-47411200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr16:47401000-47411400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr16:47404000-47432600	Weak transcription	Fetal Kidney	kidney
25	chr16:47404400-47458800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr16:47404600-47414400	Weak transcription	Esophagus	oesophagus
27	chr16:47404600-47428200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr16:47404800-47411000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:47404800-47411000	Weak transcription	Fetal Thymus	thymus
30	chr16:47404800-47411200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr16:47404800-47414400	Weak transcription	Brain Germinal Matrix	brain
32	chr16:47404800-47414400	Weak transcription	Fetal Stomach	stomach
33	chr16:47404800-47416400	Weak transcription	Gastric	stomach
34	chr16:47404800-47419600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr16:47404800-47420200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr16:47404800-47425800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr16:47404800-47426000	Weak transcription	Placenta	Placenta
38	chr16:47404800-47426000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr16:47404800-47426000	Weak transcription	Thymus	Thymus
40	chr16:47404800-47444400	Weak transcription	Lung	lung
41	chr16:47404800-47444800	Weak transcription	Fetal Intestine Small	intestine
42	chr16:47404800-47458600	Weak transcription	Aorta	Aorta
43	chr16:47405000-47414400	Weak transcription	Fetal Brain Female	brain
44	chr16:47405000-47425600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr16:47405200-47411200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr16:47405400-47413200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr16:47405400-47426200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr16:47405600-47413800	Weak transcription	Colon Smooth Muscle	Colon
49	chr16:47405600-47414200	Weak transcription	Liver	Liver
50	chr16:47405600-47458200	Weak transcription	Brain Anterior Caudate	brain

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