Variant report

Variant	rs2241021
Chromosome Location	chr7:150385231-150385232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150384449..150386247-chr7:150390461..150392753,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1016193	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10234910	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10243000	0.89[EUR][1000 genomes]
rs10243355	0.90[EUR][1000 genomes]
rs10268452	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10275039	0.89[EUR][1000 genomes]
rs10275417	0.90[EUR][1000 genomes]
rs10278670	0.87[EUR][1000 genomes]
rs2049248	0.87[EUR][1000 genomes]
rs2373845	0.89[EUR][1000 genomes]
rs2373846	0.89[EUR][1000 genomes]
rs2373847	0.89[EUR][1000 genomes]
rs4629771	0.90[EUR][1000 genomes]
rs58568453	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6944136	0.89[EUR][1000 genomes]
rs6952002	0.82[ASN][1000 genomes]
rs73163557	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7357320	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription 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	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	esv2758617	chr7:150251949-150463804	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2759573	chr7:150251949-150463804	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150382200-150385400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:150383200-150385600	Active TSS	Duodenum Mucosa	Duodenum
3	chr7:150383400-150387600	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr7:150383400-150388400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:150383600-150385400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr7:150383600-150385600	Weak transcription	Lung	lung
7	chr7:150383600-150385600	Weak transcription	Ovary	ovary
8	chr7:150383600-150385600	Weak transcription	Stomach Mucosa	stomach
9	chr7:150383600-150386200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:150383600-150387200	Weak transcription	Placenta	Placenta
11	chr7:150383600-150389400	Weak transcription	Fetal Stomach	stomach
12	chr7:150383600-150389600	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:150383600-150390800	Weak transcription	Small Intestine	intestine
14	chr7:150383600-150391000	Weak transcription	Gastric	stomach
15	chr7:150383600-150391400	Weak transcription	Brain Substantia Nigra	brain
16	chr7:150383800-150385600	Weak transcription	Esophagus	oesophagus
17	chr7:150383800-150385600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:150383800-150385600	Weak transcription	Left Ventricle	heart
19	chr7:150383800-150386000	Weak transcription	Fetal Intestine Small	intestine
20	chr7:150383800-150387200	Weak transcription	Colonic Mucosa	Colon
21	chr7:150383800-150387200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr7:150383800-150387200	Weak transcription	Fetal Lung	lung
23	chr7:150383800-150387200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:150383800-150392200	Weak transcription	Right Atrium	heart
25	chr7:150383800-150392200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:150384000-150385600	Weak transcription	Primary B cells from cord blood	blood
27	chr7:150384200-150390600	ZNF genes & repeats	GM12878-XiMat	blood
28	chr7:150384600-150385600	Enhancers	Liver	Liver
29	chr7:150384600-150385800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr7:150384600-150388800	Genic enhancers	Spleen	Spleen
31	chr7:150384800-150385400	Genic enhancers	Fetal Thymus	thymus
32	chr7:150384800-150385800	Enhancers	Colon Smooth Muscle	Colon
33	chr7:150384800-150386000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
34	chr7:150384800-150386600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
35	chr7:150384800-150387000	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:150384800-150387000	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
37	chr7:150384800-150388200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
38	chr7:150385000-150385400	Weak transcription	Right Ventricle	heart
39	chr7:150385000-150386600	Genic enhancers	Thymus	Thymus
40	chr7:150385000-150387000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
41	chr7:150385000-150387200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
42	chr7:150385000-150391600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:150385200-150385400	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr7:150385200-150385400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr7:150385200-150385400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:150385200-150385400	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr7:150385200-150385600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:150385200-150385600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:150385200-150385600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:150385200-150385600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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