Variant report

Variant	rs57746003
Chromosome Location	chr7:139953286-139953287
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139952234..139954907-chr7:139958950..139960875,2	K562	blood:
2	chr7:139929527..139932026-chr7:139951930..139954779,3	K562	blood:
3	chr7:139932119..139934323-chr7:139951167..139953374,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16882307	1.00[AMR][1000 genomes]
rs17161392	1.00[AMR][1000 genomes]
rs17161420	1.00[AMR][1000 genomes]
rs57402050	1.00[AMR][1000 genomes]
rs57695125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60760231	1.00[AMR][1000 genomes]
rs61135242	1.00[AMR][1000 genomes]
rs73160867	0.93[AFR][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	nsv889247	chr7:139855216-140033631	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1015840	chr7:139912355-139987681	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1026255	chr7:139944473-140043299	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139939800-139953400	Weak transcription	Lung	lung
2	chr7:139941800-139953400	Weak transcription	Small Intestine	intestine
3	chr7:139944000-139959400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:139948400-139955200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:139949400-139953400	Weak transcription	Brain Substantia Nigra	brain
6	chr7:139951000-139954200	Enhancers	Thymus	Thymus
7	chr7:139951200-139959600	Weak transcription	Right Atrium	heart
8	chr7:139951600-139954200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr7:139951600-139954600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr7:139951600-139954800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:139951800-139953800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr7:139951800-139954600	Enhancers	Primary hematopoietic stem cells	blood
13	chr7:139951800-139954600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:139951800-139955000	Enhancers	Fetal Thymus	thymus
15	chr7:139952000-139953800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr7:139952000-139954000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr7:139952000-139954600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr7:139952000-139954600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:139952000-139955200	Enhancers	Dnd41	blood
20	chr7:139952200-139954600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:139952400-139953800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:139952400-139954000	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr7:139952400-139954000	Enhancers	HSMM	muscle
24	chr7:139952400-139954600	Enhancers	Duodenum Mucosa	Duodenum
25	chr7:139952600-139953400	Enhancers	Primary B cells from peripheral blood	blood
26	chr7:139952600-139953400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:139952600-139953600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:139952600-139953800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:139952600-139953800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:139952600-139953800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:139952600-139953800	Enhancers	NH-A	brain
32	chr7:139952600-139953800	Enhancers	Osteobl	bone
33	chr7:139952600-139954000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr7:139952800-139953400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:139952800-139953400	Enhancers	Primary T cells from cord blood	blood
36	chr7:139952800-139953400	Enhancers	K562	blood
37	chr7:139952800-139953600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:139952800-139953600	Enhancers	Fetal Intestine Large	intestine
39	chr7:139952800-139953600	Enhancers	Fetal Intestine Small	intestine
40	chr7:139952800-139953600	Enhancers	A549	lung
41	chr7:139952800-139953600	Enhancers	HMEC	breast
42	chr7:139952800-139953800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr7:139952800-139953800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:139952800-139953800	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr7:139952800-139953800	Flanking Active TSS	HepG2	liver
46	chr7:139952800-139954000	Enhancers	HSMMtube	muscle
47	chr7:139952800-139955000	Enhancers	Placenta	Placenta
48	chr7:139953000-139953400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr7:139953000-139953400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr7:139953000-139953400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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