Variant report

Variant	rs72930190
Chromosome Location	chr11:63313095-63313096
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63306715..63308298-chr11:63312142..63314399,2	K562	blood:
2	chr11:63304362..63306319-chr11:63311123..63313248,3	K562	blood:
3	chr11:63304217..63307803-chr11:63311929..63315581,4	MCF-7	breast:
4	chr11:63307907..63312883-chr11:63312898..63316693,5	K562	blood:

Variant related genes	Relation type
ENSG00000133321	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12791482	1.00[ASN][1000 genomes]
rs12797102	1.00[ASN][1000 genomes]
rs7943876	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468588	chr11:63233363-63320239	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv555179	chr11:63233363-63320239	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63305200-63314600	Weak transcription	Fetal Kidney	kidney
2	chr11:63305400-63319000	Weak transcription	Aorta	Aorta
3	chr11:63305800-63319200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr11:63306400-63313800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:63306400-63316000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:63306400-63317000	Weak transcription	Brain Anterior Caudate	brain
7	chr11:63306400-63318600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:63306400-63318800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr11:63306600-63314000	Weak transcription	Fetal Thymus	thymus
10	chr11:63306800-63318000	Weak transcription	Dnd41	blood
11	chr11:63306800-63327600	Weak transcription	Pancreas	Pancrea
12	chr11:63307000-63319000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr11:63307800-63328200	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:63308600-63316600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:63308600-63316600	Weak transcription	Brain Substantia Nigra	brain
16	chr11:63308600-63316800	Weak transcription	Brain Angular Gyrus	brain
17	chr11:63308800-63318600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr11:63309400-63315400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:63310400-63318800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:63310600-63315400	Strong transcription	Liver	Liver
21	chr11:63310800-63315000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:63310800-63315400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:63310800-63315800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:63310800-63319200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:63311200-63315800	Strong transcription	Primary T cells from cord blood	blood
26	chr11:63311400-63315800	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr11:63311600-63314800	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:63311600-63315400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr11:63311600-63315400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:63311600-63320200	Weak transcription	Primary B cells from cord blood	blood
31	chr11:63311800-63315000	Strong transcription	Ovary	ovary
32	chr11:63311800-63315200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr11:63311800-63315400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:63311800-63315400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr11:63311800-63318600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr11:63311800-63319200	Weak transcription	GM12878-XiMat	blood
37	chr11:63312000-63313800	Strong transcription	Right Ventricle	heart
38	chr11:63312000-63314800	Strong transcription	Fetal Stomach	stomach
39	chr11:63312000-63315000	Strong transcription	Adipose Nuclei	Adipose
40	chr11:63312000-63315000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr11:63312000-63315000	Strong transcription	Spleen	Spleen
42	chr11:63312000-63315200	Strong transcription	Duodenum Mucosa	Duodenum
43	chr11:63312000-63315200	Strong transcription	Lung	lung
44	chr11:63312000-63315200	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:63312000-63315400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:63312200-63313800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:63312200-63313800	Strong transcription	Small Intestine	intestine
48	chr11:63312200-63314400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
49	chr11:63312200-63315200	Strong transcription	Brain Hippocampus Middle	brain
50	chr11:63312200-63315400	Strong transcription	Duodenum Smooth Muscle	Duodenum

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