Variant report

Variant	rs2074752
Chromosome Location	chr7:108128790-108128791
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:108126953..108129435-chr7:108135410..108136937,2	K562	blood:
2	chr7:108127744..108131124-chr7:108135356..108137737,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10273997	0.84[ASN][1000 genomes]
rs194585	0.83[ASN][1000 genomes]
rs194586	0.83[ASN][1000 genomes]
rs2396001	0.83[ASN][1000 genomes]
rs3815252	0.83[ASN][1000 genomes]
rs40846	0.81[ASN][1000 genomes]
rs40849	0.81[ASN][1000 genomes]
rs40856	0.80[ASN][1000 genomes]
rs40890	0.80[ASN][1000 genomes]
rs6466239	0.83[ASN][1000 genomes]
rs6466240	0.84[ASN][1000 genomes]
rs6966431	0.83[ASN][1000 genomes]
rs9640707	0.83[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	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	esv2753284	chr7:108105345-108130214	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108098200-108140600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:108102400-108129600	Weak transcription	Pancreas	Pancrea
3	chr7:108102400-108137000	Weak transcription	NH-A	brain
4	chr7:108102400-108143600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:108102800-108158400	Weak transcription	HSMMtube	muscle
6	chr7:108105800-108158000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:108106200-108150800	Weak transcription	NHLF	lung
8	chr7:108106800-108130000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr7:108107600-108141000	Weak transcription	Spleen	Spleen
10	chr7:108109000-108129000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:108109000-108136400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:108109000-108141400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:108109000-108162400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:108109600-108140600	Weak transcription	Esophagus	oesophagus
15	chr7:108109600-108143400	Weak transcription	GM12878-XiMat	blood
16	chr7:108111000-108137800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr7:108111400-108142200	Strong transcription	Liver	Liver
18	chr7:108111400-108154800	Weak transcription	NHEK	skin
19	chr7:108111600-108138400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:108111600-108142600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:108111800-108143600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr7:108113200-108157000	Weak transcription	Psoas Muscle	Psoas
23	chr7:108113600-108129800	Weak transcription	Hela-S3	cervix
24	chr7:108113600-108140000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:108113800-108150800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:108113800-108165800	Weak transcription	Gastric	stomach
27	chr7:108114000-108129800	Weak transcription	Fetal Heart	heart
28	chr7:108114000-108139800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:108114000-108165000	Weak transcription	Colonic Mucosa	Colon
30	chr7:108114400-108160000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:108114600-108132000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:108114800-108134800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr7:108115200-108151800	Weak transcription	NHDF-Ad	bronchial
34	chr7:108115800-108132000	Weak transcription	A549	lung
35	chr7:108116400-108141400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:108117200-108150600	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:108117200-108151800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:108117800-108164200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr7:108118200-108129200	Weak transcription	K562	blood
40	chr7:108119200-108129400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:108119200-108157600	Weak transcription	Brain Germinal Matrix	brain
42	chr7:108119600-108131800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:108119600-108132000	Weak transcription	Right Ventricle	heart
44	chr7:108119600-108134600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:108119600-108136800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:108119600-108137000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:108119800-108129600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:108119800-108131800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:108119800-108131800	Weak transcription	Placenta	Placenta
50	chr7:108119800-108132000	Weak transcription	Dnd41	blood

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