Variant report

Variant	rs2140995
Chromosome Location	chr7:98717923-98717924
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:98691119..98693568-chr7:98716635..98719338,2	K562	blood:
2	chr7:98716689..98718971-chr7:98719738..98721392,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10215809	0.94[ASN][1000 genomes]
rs10271953	0.89[ASN][1000 genomes]
rs10499947	0.89[ASN][1000 genomes]
rs12705027	0.85[ASN][1000 genomes]
rs13244262	0.83[ASN][1000 genomes]
rs1986465	0.99[ASN][1000 genomes]
rs4729514	0.85[ASN][1000 genomes]
rs6465737	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6969777	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71567524	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024529	chr7:98194830-98793518	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539036	chr7:98194830-98793518	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98705800-98719400	Weak transcription	Fetal Kidney	kidney
2	chr7:98707200-98739400	Weak transcription	Thymus	Thymus
3	chr7:98708400-98719000	Weak transcription	Fetal Lung	lung
4	chr7:98709800-98721000	Weak transcription	Colonic Mucosa	Colon
5	chr7:98710000-98718000	Weak transcription	NH-A	brain
6	chr7:98710000-98719400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr7:98710000-98719400	Weak transcription	Gastric	stomach
8	chr7:98710000-98721400	Weak transcription	Esophagus	oesophagus
9	chr7:98710000-98721400	Weak transcription	Pancreas	Pancrea
10	chr7:98710000-98739200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:98710200-98718000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr7:98710200-98720400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:98710200-98721000	Weak transcription	HMEC	breast
14	chr7:98710200-98721600	Weak transcription	Fetal Thymus	thymus
15	chr7:98710200-98723200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:98710200-98723200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:98710200-98723400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:98710400-98718200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr7:98710400-98718200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr7:98710400-98718600	Weak transcription	Primary T cells from cord blood	blood
21	chr7:98710400-98721000	Weak transcription	HUVEC	blood vessel
22	chr7:98710400-98721400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr7:98710400-98721800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:98710400-98730400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr7:98711000-98723200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr7:98713200-98719400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:98714400-98730600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:98714800-98718000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:98714800-98739400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr7:98715200-98718000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:98715200-98721800	Weak transcription	Fetal Intestine Large	intestine
32	chr7:98715400-98719800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr7:98715600-98719000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr7:98715600-98719800	Enhancers	Adipose Nuclei	Adipose
35	chr7:98716000-98718000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:98716000-98718000	Weak transcription	HSMM	muscle
37	chr7:98716000-98718200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr7:98716000-98718800	Enhancers	NHLF	lung
39	chr7:98716200-98718000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:98716400-98718200	Weak transcription	Fetal Heart	heart
41	chr7:98717000-98718200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:98717000-98718200	Enhancers	Ovary	ovary
43	chr7:98717000-98719400	Enhancers	Colon Smooth Muscle	Colon
44	chr7:98717000-98719600	Enhancers	Brain Anterior Caudate	brain
45	chr7:98717000-98720000	Enhancers	Stomach Mucosa	stomach
46	chr7:98717000-98731000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:98717200-98718000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:98717200-98718200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:98717200-98718200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:98717200-98718200	Enhancers	Psoas Muscle	Psoas

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