Variant report

Variant	rs11969311
Chromosome Location	chr6:143196518-143196519
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:143167641..143169148-chr6:143195736..143197649,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11155265	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11969269	0.87[ASN][1000 genomes]
rs12190015	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs12190804	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12192692	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12194338	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12194808	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12196693	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12199711	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12201734	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12201987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12203708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12205948	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12206012	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12208876	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12210048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12210301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12214573	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17444447	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs198661	0.82[EUR][1000 genomes]
rs2142938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2184364	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2876528	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4349826	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4492208	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62430707	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62430709	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62430712	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62430713	0.88[EUR][1000 genomes]
rs62432360	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62432362	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6905453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6910072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6912129	0.85[CEU][hapmap]
rs6925118	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6927858	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs728589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72990282	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72995085	0.95[EUR][1000 genomes]
rs972119	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs998313	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830829	chr6:143058408-143218077	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv538459	chr6:143165802-143360098	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143188600-143206200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:143189400-143197400	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr6:143189400-143198000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr6:143189400-143201400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:143189400-143205400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr6:143189400-143205800	Weak transcription	Fetal Stomach	stomach
7	chr6:143189600-143198400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:143189600-143204200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:143191200-143198800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr6:143191200-143205600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr6:143191600-143199600	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:143191800-143197800	Enhancers	Primary T cells from cord blood	blood
13	chr6:143192800-143196800	Enhancers	Primary T cells fromperipheralblood	blood
14	chr6:143192800-143196800	Enhancers	Fetal Heart	heart
15	chr6:143193000-143197800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:143193400-143203800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:143193600-143196600	Enhancers	Fetal Intestine Large	intestine
18	chr6:143193600-143198600	Weak transcription	Brain Substantia Nigra	brain
19	chr6:143193600-143200800	Weak transcription	Fetal Thymus	thymus
20	chr6:143193600-143201400	Weak transcription	NHLF	lung
21	chr6:143193600-143204200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:143193800-143199600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:143194000-143199000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:143194000-143199200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:143194000-143199600	Weak transcription	NHDF-Ad	bronchial
26	chr6:143194000-143203000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr6:143194200-143198800	Weak transcription	Brain Anterior Caudate	brain
28	chr6:143194200-143198800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr6:143194200-143199000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr6:143194200-143199200	Weak transcription	Brain Angular Gyrus	brain
31	chr6:143194200-143202200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:143194200-143204000	Weak transcription	Colon Smooth Muscle	Colon
33	chr6:143194200-143204600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:143194400-143197600	Weak transcription	Thymus	Thymus
35	chr6:143194400-143198800	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:143194400-143199600	Weak transcription	Esophagus	oesophagus
37	chr6:143195000-143196600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr6:143195000-143196600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:143195000-143197000	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr6:143195000-143197000	Enhancers	Small Intestine	intestine
41	chr6:143195000-143197800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr6:143195200-143196600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr6:143195200-143200800	Weak transcription	HSMM	muscle
44	chr6:143195200-143204200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr6:143195200-143206000	Weak transcription	Aorta	Aorta
46	chr6:143195400-143198600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:143195600-143196600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:143195600-143196600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:143195600-143197000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:143195600-143197000	Enhancers	HUES6 Cell Line	embryonic stem cell

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