Variant report

Variant	rs474629
Chromosome Location	chr11:72006977-72006978
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72002678..72005236-chr11:72005421..72007553,2	K562	blood:
2	chr11:71996280..71998537-chr11:72005690..72008069,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10501410	0.88[CEU][hapmap]
rs12416804	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12418637	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12421674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17162126	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2508201	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2508865	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3750906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs504217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55721826	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56076328	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56171963	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57614093	0.84[EUR][1000 genomes]
rs58044536	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58945323	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59612321	0.84[EUR][1000 genomes]
rs60081894	0.82[EUR][1000 genomes]
rs61036532	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs680660	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7116854	0.81[EUR][1000 genomes]
rs7130652	0.81[EUR][1000 genomes]
rs73528886	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73530718	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73530724	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73530754	0.83[EUR][1000 genomes]
rs73530756	0.83[EUR][1000 genomes]
rs7940062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv832206	chr11:72006573-72176017	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71995600-72028000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr11:71998000-72012200	Weak transcription	NH-A	brain
3	chr11:72000200-72013600	Weak transcription	HUVEC	blood vessel
4	chr11:72000400-72008200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:72000400-72017200	Weak transcription	Fetal Brain Male	brain
6	chr11:72001000-72039800	Weak transcription	Psoas Muscle	Psoas
7	chr11:72001800-72010800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:72001800-72019200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr11:72001800-72032600	Weak transcription	A549	lung
10	chr11:72002000-72025400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:72002200-72008400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:72002200-72009200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:72002200-72010800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:72002200-72012400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:72002200-72025600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:72002600-72007400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:72002600-72013000	Weak transcription	HMEC	breast
18	chr11:72002600-72024000	Weak transcription	Small Intestine	intestine
19	chr11:72002800-72011800	Weak transcription	Osteobl	bone
20	chr11:72002800-72012000	Weak transcription	Fetal Kidney	kidney
21	chr11:72002800-72025400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:72002800-72044600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:72003000-72014800	Strong transcription	Fetal Intestine Small	intestine
24	chr11:72003000-72017000	Strong transcription	Fetal Stomach	stomach
25	chr11:72003200-72007800	Strong transcription	Thymus	Thymus
26	chr11:72003200-72008000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:72003200-72008000	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:72003200-72008800	Strong transcription	Spleen	Spleen
29	chr11:72003200-72009000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:72003200-72009000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:72003200-72009200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:72003200-72009200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:72003200-72009200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr11:72003200-72009400	Strong transcription	Brain Angular Gyrus	brain
35	chr11:72003200-72010000	Strong transcription	Brain Anterior Caudate	brain
36	chr11:72003200-72013400	Strong transcription	Brain Substantia Nigra	brain
37	chr11:72003200-72013600	Strong transcription	Brain Cingulate Gyrus	brain
38	chr11:72003200-72013600	Strong transcription	Brain Hippocampus Middle	brain
39	chr11:72003200-72013800	Strong transcription	Fetal Brain Female	brain
40	chr11:72003200-72014800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr11:72003200-72015000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:72003200-72015200	Strong transcription	Pancreas	Pancrea
43	chr11:72003200-72015400	Strong transcription	Fetal Muscle Leg	muscle
44	chr11:72003200-72016400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:72003200-72017200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr11:72003200-72017400	Strong transcription	Fetal Muscle Trunk	muscle
47	chr11:72003200-72019000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:72003200-72019600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:72003200-72019800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:72003200-72020000	Strong transcription	Placenta	Placenta

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