Variant report

Variant	rs12208876
Chromosome Location	chr6:143191136-143191137
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	chr6:143186229..143189198-chr6:143189787..143193222,3	K562	blood:
2	chr6:143187698..143190335-chr6:143190930..143193098,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11155265	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11969269	0.83[ASN][1000 genomes]
rs11969311	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12190015	0.82[CHB][hapmap];0.96[CHD][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs12190804	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12192692	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12194338	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12194808	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12196693	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12199711	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12201734	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12201987	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12203708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12205948	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12206012	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12210048	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12210301	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12214573	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17444447	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs198661	0.82[EUR][1000 genomes]
rs2142938	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2184364	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2876528	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4349826	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4492208	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62430707	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62430709	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62430712	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62430713	0.88[EUR][1000 genomes]
rs62432360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62432362	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6905453	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6910072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6912129	0.86[CEU][hapmap]
rs6925118	0.93[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6927858	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs728589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72990282	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72995085	0.95[EUR][1000 genomes]
rs7758383	0.83[ASN][1000 genomes]
rs972119	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs998313	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143175600-143192000	Weak transcription	NHEK	skin
2	chr6:143175600-143192200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:143175600-143192800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:143176600-143192400	Weak transcription	NHDF-Ad	bronchial
5	chr6:143177000-143192200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:143178200-143192800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:143179600-143191200	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:143179600-143195000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:143179600-143195800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:143180600-143193000	Weak transcription	Thymus	Thymus
11	chr6:143182200-143192800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:143183200-143191200	Weak transcription	Right Ventricle	heart
13	chr6:143185600-143195000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:143185600-143195000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr6:143185600-143195000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:143185800-143195800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr6:143187000-143195800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:143187200-143192800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:143187200-143193600	Weak transcription	Esophagus	oesophagus
20	chr6:143187200-143194200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr6:143187600-143193000	Weak transcription	Gastric	stomach
22	chr6:143188000-143195200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr6:143188400-143192000	Enhancers	Psoas Muscle	Psoas
24	chr6:143188600-143206200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:143188800-143192800	Weak transcription	Aorta	Aorta
26	chr6:143189400-143191200	Weak transcription	Fetal Thymus	thymus
27	chr6:143189400-143192200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:143189400-143192200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr6:143189400-143192200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr6:143189400-143192400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:143189400-143192800	Weak transcription	Colon Smooth Muscle	Colon
32	chr6:143189400-143193000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:143189400-143193600	Weak transcription	Ovary	ovary
34	chr6:143189400-143197400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr6:143189400-143198000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr6:143189400-143201400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:143189400-143205400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr6:143189400-143205800	Weak transcription	Fetal Stomach	stomach
39	chr6:143189600-143192000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr6:143189600-143192000	Weak transcription	Brain Substantia Nigra	brain
41	chr6:143189600-143192400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr6:143189600-143192400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr6:143189600-143192400	Weak transcription	Fetal Intestine Large	intestine
44	chr6:143189600-143192400	Weak transcription	Fetal Intestine Small	intestine
45	chr6:143189600-143192800	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr6:143189600-143192800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr6:143189600-143192800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr6:143189600-143192800	Weak transcription	Stomach Mucosa	stomach
49	chr6:143189600-143193000	Weak transcription	Fetal Kidney	kidney
50	chr6:143189600-143198400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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