Variant report

Variant	rs7596123
Chromosome Location	chr2:74058502-74058503
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74055980..74060254-chr2:74070607..74073353,3	MCF-7	breast:
2	chr2:74056698..74058945-chr2:74079558..74081408,2	MCF-7	breast:
3	chr2:74057033..74061162-chr2:74063972..74066162,5	K562	blood:
4	chr2:74055188..74061210-chr2:74210942..74215230,5	K562	blood:
5	chr2:74058326..74059914-chr2:75062118..75065073,2	K562	blood:
6	chr2:74052797..74060455-chr2:74207744..74214705,21	MCF-7	breast:
7	chr2:74058276..74060848-chr2:74077343..74080264,3	K562	blood:
8	chr2:74054453..74058790-chr2:74226313..74230079,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124356	Chromatin interaction
ENSG00000255989	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000159399	Chromatin interaction
ENSG00000237883	Chromatin interaction
ENSG00000187605	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10169994	0.94[EUR][1000 genomes]
rs10192291	0.94[EUR][1000 genomes]
rs11126418	0.94[EUR][1000 genomes]
rs11888468	0.94[EUR][1000 genomes]
rs11890343	1.00[EUR][1000 genomes]
rs11904306	0.94[EUR][1000 genomes]
rs13402321	0.94[EUR][1000 genomes]
rs13409194	0.94[EUR][1000 genomes]
rs55815836	0.94[EUR][1000 genomes]
rs56055081	0.91[EUR][1000 genomes]
rs6720781	0.94[EUR][1000 genomes]
rs7570391	0.94[EUR][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	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer 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	36 gene(s)	inside rSNPs	diseases
2	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv834260	chr2:73906106-74076520	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74056800-74058600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:74056800-74059000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:74056800-74059600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:74056800-74059800	Weak transcription	Aorta	Aorta
5	chr2:74056800-74059800	Weak transcription	Esophagus	oesophagus
6	chr2:74057000-74058600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:74057000-74058600	Enhancers	Rectal Smooth Muscle	rectum
8	chr2:74057000-74058600	Enhancers	Stomach Mucosa	stomach
9	chr2:74057000-74058800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr2:74057000-74058800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr2:74057000-74059800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:74057000-74059800	Weak transcription	Gastric	stomach
13	chr2:74057000-74059800	Weak transcription	Ovary	ovary
14	chr2:74057000-74059800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:74057000-74059800	Weak transcription	Thymus	Thymus
16	chr2:74057000-74059800	Weak transcription	Spleen	Spleen
17	chr2:74057000-74060200	Weak transcription	Left Ventricle	heart
18	chr2:74057000-74061800	Weak transcription	Lung	lung
19	chr2:74057000-74063400	Weak transcription	Right Atrium	heart
20	chr2:74057000-74069400	Weak transcription	Colonic Mucosa	Colon
21	chr2:74057000-74076200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:74057000-74093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:74057200-74058600	Weak transcription	Primary B cells from cord blood	blood
24	chr2:74057200-74058600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:74057200-74058600	Enhancers	Brain Hippocampus Middle	brain
26	chr2:74057200-74058800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:74057200-74058800	Enhancers	Brain Angular Gyrus	brain
28	chr2:74057200-74058800	Enhancers	Brain Anterior Caudate	brain
29	chr2:74057200-74059000	Enhancers	NHDF-Ad	bronchial
30	chr2:74057200-74059400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:74057200-74059400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:74057200-74059400	Weak transcription	Right Ventricle	heart
33	chr2:74057200-74059600	Weak transcription	Fetal Lung	lung
34	chr2:74057200-74061800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:74057200-74062000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:74057400-74058800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:74057400-74059000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:74057400-74059600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:74057400-74059600	Weak transcription	Fetal Brain Male	brain
40	chr2:74057400-74059600	Weak transcription	Fetal Heart	heart
41	chr2:74057400-74059800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:74057400-74059800	Weak transcription	Adipose Nuclei	Adipose
43	chr2:74057400-74060200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr2:74057400-74063400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr2:74057600-74059400	Weak transcription	Fetal Intestine Small	intestine
46	chr2:74057600-74059800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:74057600-74071400	Weak transcription	Fetal Kidney	kidney
48	chr2:74057800-74058600	Weak transcription	Liver	Liver
49	chr2:74057800-74059400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:74057800-74059600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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