Variant report

Variant	rs4650666
Chromosome Location	chr1:174880809-174880810
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174846695..174849557-chr1:174878847..174881198,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10465483	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs10489332	1.00[YRI][hapmap]
rs1653626	0.81[CEU][hapmap]
rs1653627	0.81[CEU][hapmap]
rs1653632	0.81[CEU][hapmap]
rs170768	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1754351	0.81[CEU][hapmap]
rs1754355	0.81[CEU][hapmap]
rs1793291	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1793293	0.85[EUR][1000 genomes]
rs1793297	0.81[CEU][hapmap]
rs1793319	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1894200	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2187562	0.80[CEU][hapmap]
rs2987869	0.81[CEU][hapmap]
rs2987874	0.81[CEU][hapmap]
rs3018410	0.81[CEU][hapmap]
rs3118980	0.84[CEU][hapmap]
rs332783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs332795	0.81[CEU][hapmap]
rs332796	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs332799	0.81[EUR][1000 genomes]
rs333418	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41498747	0.82[YRI][hapmap]
rs4233195	0.81[CEU][hapmap]
rs4651238	0.82[CEU][hapmap]
rs6425305	0.85[CEU][hapmap]
rs6658861	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6665216	0.85[CEU][hapmap]
rs6673649	0.82[YRI][hapmap]
rs6688577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700434	1.00[YRI][hapmap]
rs7538588	0.85[CEU][hapmap]
rs7538650	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs913685	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9804056	0.85[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174861400-174902400	Weak transcription	Left Ventricle	heart
2	chr1:174862800-174882400	Weak transcription	Fetal Lung	lung
3	chr1:174863200-174883200	Weak transcription	Small Intestine	intestine
4	chr1:174863400-174881400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr1:174863800-174883000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:174864200-174882000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:174871800-174882000	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:174872000-174885800	Weak transcription	Pancreas	Pancrea
9	chr1:174872000-174886000	Weak transcription	Gastric	stomach
10	chr1:174872000-174889200	Weak transcription	Primary B cells from cord blood	blood
11	chr1:174872200-174882600	Weak transcription	Stomach Mucosa	stomach
12	chr1:174872400-174888800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:174872800-174900400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:174873400-174897200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:174873600-174882000	Weak transcription	K562	blood
16	chr1:174874000-174910000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:174874200-174885400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:174874200-174885800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:174874200-174938200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:174874800-174882600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:174875400-174885400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:174875600-174881000	Weak transcription	Fetal Intestine Large	intestine
23	chr1:174876400-174882000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:174876800-174882600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:174876800-174933600	Weak transcription	Aorta	Aorta
26	chr1:174877200-174885600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:174877400-174883800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:174879200-174882200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:174879800-174881200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:174879800-174885400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:174879800-174885400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:174880200-174885600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:174880400-174881000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:174880800-174881000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:174880800-174881000	Enhancers	Fetal Intestine Small	intestine
36	chr1:174880800-174881200	Enhancers	Fetal Brain Female	brain
37	chr1:174880800-174882200	Enhancers	GM12878-XiMat	blood

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