Variant report

Variant	rs982292
Chromosome Location	chr1:221891352-221891353
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:221889093..221891683-chr1:222160866..222163448,2	K562	blood:
2	chr1:221882812..221884320-chr1:221889796..221891918,2	MCF-7	breast:
3	chr1:221887650..221891571-chr1:221892438..221898117,9	K562	blood:
4	chr1:221882652..221891989-chr1:221912814..221917285,15	K562	blood:
5	chr1:221887523..221889150-chr1:221891043..221892989,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143507	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10746413	0.88[CEU][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs11118835	0.91[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs6678488	0.91[ASN][1000 genomes]
rs908858	0.89[CEU][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS 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
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221879600-221891800	Enhancers	Fetal Thymus	thymus
2	chr1:221879600-221902400	Enhancers	Brain Substantia Nigra	brain
3	chr1:221879800-221896800	Enhancers	Colon Smooth Muscle	Colon
4	chr1:221880400-221893200	Enhancers	Primary hematopoietic stem cells	blood
5	chr1:221882600-221893400	Enhancers	Brain Cingulate Gyrus	brain
6	chr1:221882800-221899000	Genic enhancers	HSMM	muscle
7	chr1:221884600-221891600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:221884800-221896200	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:221885800-221892200	Enhancers	NHDF-Ad	bronchial
10	chr1:221886000-221895200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:221886200-221896000	Weak transcription	NHEK	skin
12	chr1:221886600-221891600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:221886600-221891600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:221886600-221891600	Weak transcription	Spleen	Spleen
15	chr1:221886600-221896000	Weak transcription	Aorta	Aorta
16	chr1:221886600-221897000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:221886600-221897000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:221886600-221897000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:221887200-221892200	Weak transcription	Thymus	Thymus
20	chr1:221887200-221899000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:221887400-221893400	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr1:221887600-221892000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:221887800-221891400	Enhancers	Brain Angular Gyrus	brain
24	chr1:221887800-221892400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr1:221887800-221893000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:221887800-221894000	Enhancers	Fetal Stomach	stomach
27	chr1:221887800-221898400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:221888000-221891800	Enhancers	Stomach Smooth Muscle	stomach
29	chr1:221888000-221893200	Enhancers	Liver	Liver
30	chr1:221888000-221894400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr1:221888000-221899000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr1:221888000-221903000	Enhancers	Brain Hippocampus Middle	brain
33	chr1:221888200-221891600	Enhancers	A549	lung
34	chr1:221888200-221891800	Enhancers	Hela-S3	cervix
35	chr1:221888400-221892200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:221888400-221892600	Enhancers	Stomach Mucosa	stomach
37	chr1:221888400-221893400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr1:221888600-221892200	Enhancers	Osteobl	bone
39	chr1:221888600-221893200	Enhancers	Fetal Muscle Leg	muscle
40	chr1:221888600-221894000	Enhancers	NHLF	lung
41	chr1:221888600-221896800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:221888800-221891800	Enhancers	Brain Germinal Matrix	brain
43	chr1:221888800-221893000	Enhancers	Fetal Heart	heart
44	chr1:221888800-221898600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr1:221889000-221893000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:221889000-221893200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr1:221889000-221893600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr1:221889000-221896600	Weak transcription	Primary T cells from cord blood	blood
49	chr1:221889200-221891800	Enhancers	Fetal Intestine Large	intestine
50	chr1:221889200-221891800	Enhancers	Placenta Amnion	Placenta Amnion

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