Variant report

Variant	rs12194808
Chromosome Location	chr6:143173075-143173076
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:143171301..143176697-chr6:143264648..143267813,7	MCF-7	breast:
2	chr6:143169473..143172002-chr6:143172419..143174158,2	MCF-7	breast:
3	chr6:143168758..143171747-chr6:143172682..143174626,2	K562	blood:
4	chr6:143172725..143174891-chr6:143177520..143179547,2	K562	blood:
5	chr6:143164077..143167005-chr6:143171548..143173289,2	K562	blood:

Variant related genes	Relation type
ENSG00000010818	Chromatin interaction

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

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

rs_ID	r²[population]
rs11155265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11969311	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12190015	0.88[ASN][1000 genomes]
rs12190804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194338	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12196693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199711	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12201734	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12201987	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12203708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12205948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12208876	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12210048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210301	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12214573	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17444447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198661	0.86[EUR][1000 genomes]
rs2142938	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2184364	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2876528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4349826	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4492208	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62430707	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62430709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62430712	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62430713	0.95[EUR][1000 genomes]
rs62432360	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62432362	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6905453	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6910072	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6912129	0.84[AMR][1000 genomes]
rs6925118	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6927858	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs728589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72990282	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72995085	0.88[EUR][1000 genomes]
rs7758383	0.89[ASN][1000 genomes]
rs972119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs998313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143167200-143177000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr6:143167400-143175000	Weak transcription	Right Ventricle	heart
3	chr6:143167800-143174800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:143167800-143176600	Enhancers	Primary T cells from cord blood	blood
5	chr6:143168200-143176000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:143168400-143173400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:143168400-143174400	Weak transcription	Lung	lung
8	chr6:143168400-143174400	Weak transcription	Pancreas	Pancrea
9	chr6:143168400-143174800	Weak transcription	Right Atrium	heart
10	chr6:143168400-143174800	Weak transcription	Spleen	Spleen
11	chr6:143168400-143175200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr6:143168400-143175200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:143168400-143175600	Weak transcription	Dnd41	blood
14	chr6:143168400-143176200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:143168400-143177400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr6:143168400-143177600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr6:143168400-143178600	Weak transcription	Fetal Stomach	stomach
18	chr6:143168400-143179000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:143168400-143179400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:143168400-143188600	Weak transcription	Aorta	Aorta
21	chr6:143168600-143173200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr6:143168600-143173600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr6:143168800-143175200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:143169200-143175800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:143169200-143178600	Weak transcription	Fetal Brain Female	brain
26	chr6:143169400-143174200	Enhancers	NHDF-Ad	bronchial
27	chr6:143169400-143176200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr6:143169600-143173200	Enhancers	Fetal Intestine Small	intestine
29	chr6:143169600-143173200	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr6:143169600-143174800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr6:143169800-143173200	Enhancers	Duodenum Mucosa	Duodenum
32	chr6:143169800-143174800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:143170600-143174200	Weak transcription	Stomach Mucosa	stomach
34	chr6:143170800-143176200	Enhancers	Small Intestine	intestine
35	chr6:143171000-143173400	Enhancers	Liver	Liver
36	chr6:143171200-143174400	Weak transcription	Psoas Muscle	Psoas
37	chr6:143171400-143173200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:143171400-143173200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr6:143171400-143173200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:143171400-143173200	Enhancers	Osteobl	bone
41	chr6:143171400-143174400	Enhancers	HSMM	muscle
42	chr6:143171600-143173200	Enhancers	Brain Anterior Caudate	brain
43	chr6:143171600-143173200	Enhancers	HMEC	breast
44	chr6:143171600-143173800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:143171600-143175800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr6:143171800-143173200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:143171800-143173200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr6:143171800-143173200	Enhancers	Brain Cingulate Gyrus	brain
49	chr6:143171800-143173200	Enhancers	Colon Smooth Muscle	Colon
50	chr6:143171800-143173400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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