Variant report

Variant	rs504217
Chromosome Location	chr11:72006086-72006087
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	chr11:72002678..72005236-chr11:72005421..72007553,2	K562	blood:
2	chr11:71996280..71998537-chr11:72005690..72008069,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10501410	0.88[CEU][hapmap]
rs12416741	0.82[MEX][hapmap]
rs12416804	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12418637	0.83[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12421674	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17162126	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1784257	0.82[MEX][hapmap];0.84[TSI][hapmap]
rs2508201	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2508865	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3750906	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3900852	0.94[MEX][hapmap];0.89[TSI][hapmap]
rs472837	0.81[MEX][hapmap]
rs474629	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	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56076328	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56171963	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57614093	0.84[EUR][1000 genomes]
rs58044536	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58945323	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs590732	0.82[MEX][hapmap]
rs59612321	0.84[EUR][1000 genomes]
rs60081894	0.82[EUR][1000 genomes]
rs61036532	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs680660	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7110260	0.84[GIH][hapmap]
rs7116854	0.81[EUR][1000 genomes]
rs7130652	0.81[EUR][1000 genomes]
rs73528886	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73530718	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73530724	0.98[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	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	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

No data

Chromatin state (count:119 , 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	chr11:72002800-72006200	Weak transcription	Fetal Thymus	thymus
20	chr11:72002800-72011800	Weak transcription	Osteobl	bone
21	chr11:72002800-72012000	Weak transcription	Fetal Kidney	kidney
22	chr11:72002800-72025400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:72002800-72044600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:72003000-72014800	Strong transcription	Fetal Intestine Small	intestine
25	chr11:72003000-72017000	Strong transcription	Fetal Stomach	stomach
26	chr11:72003200-72006200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:72003200-72006400	Strong transcription	NHLF	lung
28	chr11:72003200-72006800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:72003200-72006800	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr11:72003200-72007800	Strong transcription	Thymus	Thymus
31	chr11:72003200-72008000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:72003200-72008000	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:72003200-72008800	Strong transcription	Spleen	Spleen
34	chr11:72003200-72009000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:72003200-72009000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:72003200-72009200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:72003200-72009200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:72003200-72009200	Strong transcription	Duodenum Mucosa	Duodenum
39	chr11:72003200-72009400	Strong transcription	Brain Angular Gyrus	brain
40	chr11:72003200-72010000	Strong transcription	Brain Anterior Caudate	brain
41	chr11:72003200-72013400	Strong transcription	Brain Substantia Nigra	brain
42	chr11:72003200-72013600	Strong transcription	Brain Cingulate Gyrus	brain
43	chr11:72003200-72013600	Strong transcription	Brain Hippocampus Middle	brain
44	chr11:72003200-72013800	Strong transcription	Fetal Brain Female	brain
45	chr11:72003200-72014800	Strong transcription	Stomach Smooth Muscle	stomach
46	chr11:72003200-72015000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:72003200-72015200	Strong transcription	Pancreas	Pancrea
48	chr11:72003200-72015400	Strong transcription	Fetal Muscle Leg	muscle
49	chr11:72003200-72016400	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:72003200-72017200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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