Variant report

Variant	rs11809921
Chromosome Location	chr1:9917688-9917689
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	chr1:9916480..9919428-chr1:9921291..9923091,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11121499	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1220408	0.95[ASN][1000 genomes]
rs15177	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17034420	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033960	0.86[EUR][1000 genomes]
rs2278611	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3860318	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3888014	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56315207	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57979292	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58281392	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59341676	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59530761	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59533551	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60389428	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60547803	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60624175	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61785229	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61785586	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61785590	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658583	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6683824	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695334	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858068	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74054138	0.81[AMR][1000 genomes]
rs7529783	0.81[AMR][1000 genomes]
rs7533225	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv871146	chr1:9897001-9951288	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9896000-9919200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:9904000-9929800	Weak transcription	Aorta	Aorta
3	chr1:9904200-9927400	Weak transcription	Colonic Mucosa	Colon
4	chr1:9904200-9927800	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:9904400-9922600	Weak transcription	Pancreas	Pancrea
6	chr1:9904400-9923400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:9904400-9927800	Weak transcription	Stomach Mucosa	stomach
8	chr1:9904400-9930000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:9904600-9922600	Weak transcription	Ovary	ovary
10	chr1:9904600-9935000	Weak transcription	Osteobl	bone
11	chr1:9904800-9946000	Weak transcription	Fetal Kidney	kidney
12	chr1:9906600-9927400	Weak transcription	Liver	Liver
13	chr1:9907000-9919200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:9907000-9930000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:9907400-9929800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:9910000-9935000	Weak transcription	NHLF	lung
17	chr1:9910200-9918400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:9911000-9918400	Weak transcription	Left Ventricle	heart
19	chr1:9911000-9919600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:9911000-9927400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:9911000-9930400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:9911200-9932400	Weak transcription	Fetal Heart	heart
23	chr1:9911400-9918000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:9911400-9919200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:9911400-9919400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:9911400-9922600	Weak transcription	Right Ventricle	heart
27	chr1:9911400-9927200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr1:9912200-9929600	Weak transcription	Primary B cells from cord blood	blood
29	chr1:9912200-9929600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:9912600-9919600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr1:9912600-9927000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:9912800-9918000	Weak transcription	Gastric	stomach
33	chr1:9913000-9918000	Weak transcription	Brain Germinal Matrix	brain
34	chr1:9913000-9918200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr1:9913000-9918400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:9913000-9919000	Weak transcription	Placenta	Placenta
37	chr1:9913000-9922600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:9913200-9919200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:9913200-9919400	Weak transcription	Brain Anterior Caudate	brain
40	chr1:9913200-9919400	Weak transcription	HSMMtube	muscle
41	chr1:9913200-9921000	Weak transcription	HSMM	muscle
42	chr1:9913200-9923600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:9913400-9919400	Weak transcription	Brain Substantia Nigra	brain
44	chr1:9913400-9927400	Weak transcription	Fetal Brain Male	brain
45	chr1:9913600-9917800	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:9913600-9919000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:9913600-9919200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:9913600-9919400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:9913600-9919600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:9913600-9919600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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