Variant report

Variant	rs11969269
Chromosome Location	chr6:143203290-143203291
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:143201225..143204223-chr6:143212902..143216834,4	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11969311	0.87[ASN][1000 genomes]
rs12190015	0.88[CHD][hapmap]
rs12194338	0.88[ASN][1000 genomes]
rs12196693	0.81[CHB][hapmap]
rs12201987	0.87[CHB][hapmap]
rs12203708	0.87[CHB][hapmap];0.92[CHD][hapmap]
rs12208876	0.83[ASN][1000 genomes]
rs12210048	0.85[CHB][hapmap]
rs12210301	0.87[CHB][hapmap]
rs12662762	1.00[CEU][hapmap]
rs2142938	0.87[CHB][hapmap];0.83[CHD][hapmap]
rs62432360	0.84[ASN][1000 genomes]
rs62432362	0.99[ASN][1000 genomes]
rs6905453	0.87[CHB][hapmap]
rs6910072	0.87[CHB][hapmap];0.92[CHD][hapmap]
rs6925118	0.80[CHB][hapmap]
rs728589	0.87[CHB][hapmap];0.92[CHD][hapmap]
rs9373362	0.87[EUR][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:90 , 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	chr6:143189400-143205400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr6:143189400-143205800	Weak transcription	Fetal Stomach	stomach
4	chr6:143189600-143204200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:143191200-143205600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr6:143193400-143203800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:143193600-143204200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:143194200-143204000	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:143194200-143204600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:143195200-143204200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:143195200-143206000	Weak transcription	Aorta	Aorta
12	chr6:143196200-143204400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:143196200-143205200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:143196200-143205600	Weak transcription	HUVEC	blood vessel
15	chr6:143196400-143204800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:143196400-143205600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:143196400-143205600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr6:143196400-143205600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr6:143196400-143205600	Weak transcription	NHEK	skin
20	chr6:143196600-143204400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:143196600-143205800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:143196600-143206000	Weak transcription	HepG2	liver
23	chr6:143196800-143205800	Weak transcription	Spleen	Spleen
24	chr6:143196800-143206000	Weak transcription	Stomach Mucosa	stomach
25	chr6:143197000-143205800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:143197000-143205800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:143199000-143203800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr6:143199800-143204000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:143199800-143205400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:143199800-143205800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr6:143200000-143204600	Enhancers	Brain Substantia Nigra	brain
32	chr6:143200000-143205000	Enhancers	Brain Cingulate Gyrus	brain
33	chr6:143200000-143206000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:143200000-143206000	Weak transcription	Right Ventricle	heart
35	chr6:143200200-143204000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:143200200-143204600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr6:143200600-143204000	Weak transcription	Fetal Brain Female	brain
38	chr6:143201000-143203600	Weak transcription	Fetal Brain Male	brain
39	chr6:143201000-143205800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:143201200-143205600	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr6:143201600-143204000	Weak transcription	HSMM	muscle
42	chr6:143201600-143205800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr6:143201800-143204000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:143201800-143204000	Genic enhancers	Primary T cells from cord blood	blood
45	chr6:143201800-143204400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr6:143202000-143203800	Weak transcription	Brain Anterior Caudate	brain
47	chr6:143202000-143204000	Weak transcription	HSMMtube	muscle
48	chr6:143202000-143204200	Weak transcription	NHLF	lung
49	chr6:143202000-143205400	Weak transcription	Fetal Thymus	thymus
50	chr6:143202000-143206200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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