Variant report

Variant	rs71645988
Chromosome Location	chr7:140453458-140453459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1267674	1.00[AMR][1000 genomes]
rs17161714	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7776465	1.00[AMR][1000 genomes]
rs7786103	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351231	chr7:140390303-140588539	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv831158	chr7:140392222-140602315	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv869260	chr7:140404835-140542905	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1015269	chr7:140412464-140458821	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140398000-140466600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:140398200-140473800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:140398200-140492600	Weak transcription	Colonic Mucosa	Colon
4	chr7:140398600-140459400	Weak transcription	Brain Germinal Matrix	brain
5	chr7:140398600-140491800	Weak transcription	Fetal Brain Male	brain
6	chr7:140399400-140468200	Weak transcription	Right Ventricle	heart
7	chr7:140400000-140474000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:140404800-140489000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:140404800-140517000	Weak transcription	Psoas Muscle	Psoas
10	chr7:140405200-140470800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:140405600-140472200	Weak transcription	Brain Substantia Nigra	brain
12	chr7:140406600-140472800	Weak transcription	Hela-S3	cervix
13	chr7:140407000-140454200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:140407000-140466800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:140407200-140454400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:140407200-140459200	Weak transcription	Fetal Lung	lung
17	chr7:140407200-140468400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr7:140415000-140454200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:140415000-140504400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:140415200-140466400	Weak transcription	Aorta	Aorta
21	chr7:140415200-140472000	Weak transcription	Lung	lung
22	chr7:140415200-140506600	Weak transcription	Gastric	stomach
23	chr7:140421800-140474000	Weak transcription	Brain Angular Gyrus	brain
24	chr7:140424200-140468200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:140424400-140476600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr7:140425400-140468400	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:140426200-140467200	Weak transcription	Brain Hippocampus Middle	brain
28	chr7:140426200-140473000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:140426600-140455800	Weak transcription	NH-A	brain
30	chr7:140428200-140489400	Weak transcription	Small Intestine	intestine
31	chr7:140428600-140476600	Weak transcription	NHDF-Ad	bronchial
32	chr7:140428800-140453800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr7:140429200-140459600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:140431200-140474200	Weak transcription	Esophagus	oesophagus
35	chr7:140436800-140468200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:140438200-140466800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:140438400-140482400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr7:140439000-140459200	Weak transcription	Fetal Stomach	stomach
39	chr7:140439000-140459400	Weak transcription	Fetal Muscle Leg	muscle
40	chr7:140439200-140458200	Weak transcription	Ovary	ovary
41	chr7:140439600-140474800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:140439800-140455400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr7:140440000-140453800	Weak transcription	Dnd41	blood
44	chr7:140440000-140454400	Weak transcription	Osteobl	bone
45	chr7:140440000-140468400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:140440000-140469600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr7:140440000-140472000	Weak transcription	Brain Anterior Caudate	brain
48	chr7:140440400-140476400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:140440600-140466400	Weak transcription	Thymus	Thymus
50	chr7:140440600-140492600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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