Variant report

Variant	rs11641424
Chromosome Location	chr16:72066879-72066880
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	chr16:72063644..72068300-chr16:72070682..72074254,4	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11640722	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs11641721	0.80[AMR][1000 genomes]
rs11646364	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11647889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11648479	0.80[AMR][1000 genomes]
rs1424241	0.80[EUR][1000 genomes]
rs17603936	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs1820248	1.00[CHB][hapmap]
rs3213419	1.00[CHB][hapmap]
rs3213423	1.00[CHB][hapmap]
rs34832584	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35370634	0.80[AMR][1000 genomes]
rs3812985	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3852780	0.92[ASN][1000 genomes]
rs398580	0.91[ASN][1000 genomes]
rs4788459	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4788605	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs4788611	0.80[AMR][1000 genomes]
rs4788614	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4788615	0.80[AMR][1000 genomes]
rs5468	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs55824906	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56387295	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6499558	0.81[EUR][1000 genomes]
rs72787027	0.89[AFR][1000 genomes]
rs72787028	0.89[AFR][1000 genomes]
rs72787038	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72787042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787046	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787056	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72787060	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72787062	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72787070	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72787077	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72787078	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72787085	0.80[AMR][1000 genomes]
rs72787091	0.80[AMR][1000 genomes]
rs72787093	0.80[AMR][1000 genomes]
rs72787094	0.80[AMR][1000 genomes]
rs7499467	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8047881	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	89 gene(s)	inside rSNPs	diseases
2	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72043200-72069800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:72043200-72069800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:72043600-72075200	Weak transcription	Fetal Brain Male	brain
4	chr16:72051400-72078600	Weak transcription	Fetal Kidney	kidney
5	chr16:72058200-72069800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:72058200-72072200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:72058200-72076000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr16:72058200-72076000	Weak transcription	HSMMtube	muscle
9	chr16:72058200-72077000	Weak transcription	Colonic Mucosa	Colon
10	chr16:72058200-72078000	Weak transcription	Fetal Lung	lung
11	chr16:72058600-72069800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr16:72059400-72069600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr16:72059600-72084600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr16:72059800-72069200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr16:72060000-72073200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr16:72060000-72079200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr16:72060200-72069800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr16:72060200-72070000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr16:72060200-72075600	Weak transcription	Lung	lung
20	chr16:72060200-72075600	Weak transcription	Pancreas	Pancrea
21	chr16:72060200-72075800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr16:72060200-72075800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr16:72060200-72076200	Weak transcription	Brain Angular Gyrus	brain
24	chr16:72060200-72076200	Weak transcription	Placenta	Placenta
25	chr16:72060200-72076400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr16:72060200-72080000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr16:72060200-72095600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr16:72060200-72110600	Weak transcription	Esophagus	oesophagus
29	chr16:72060400-72068600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr16:72060600-72075800	Weak transcription	Brain Germinal Matrix	brain
31	chr16:72061600-72068000	Weak transcription	Fetal Intestine Large	intestine
32	chr16:72061600-72069800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr16:72061600-72075200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:72061600-72075800	Weak transcription	Brain Anterior Caudate	brain
35	chr16:72061600-72076200	Weak transcription	Fetal Intestine Small	intestine
36	chr16:72062000-72072000	Weak transcription	Ovary	ovary
37	chr16:72062000-72076000	Weak transcription	Colon Smooth Muscle	Colon
38	chr16:72062000-72076000	Weak transcription	Thymus	Thymus
39	chr16:72062200-72069800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:72062200-72075400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr16:72062200-72075600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr16:72062200-72079600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr16:72062200-72080000	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr16:72062400-72075400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr16:72062400-72075800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr16:72062400-72075800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr16:72062400-72076000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr16:72062400-72076000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr16:72062400-72076000	Weak transcription	Spleen	Spleen
50	chr16:72062400-72076800	Weak transcription	Brain Cingulate Gyrus	brain

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