Variant report

Variant	rs7694045
Chromosome Location	chr4:129130659-129130660
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13106597	1.00[GIH][hapmap]
rs28720048	1.00[AFR][1000 genomes]
rs6818207	1.00[YRI][hapmap]
rs6844291	1.00[YRI][hapmap]
rs7665531	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3416036	chr4:128782694-129133956	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv3390887	chr4:128932563-129207255	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	25 gene(s)	inside rSNPs	diseases
6	esv1792524	chr4:128983925-129133826	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv879929	chr4:129029653-129142079	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129094600-129131000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:129098400-129141200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:129103800-129131600	Weak transcription	NHLF	lung
4	chr4:129106600-129131000	Weak transcription	Colonic Mucosa	Colon
5	chr4:129108200-129149400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:129108400-129136000	Weak transcription	Lung	lung
7	chr4:129108600-129132800	Weak transcription	Fetal Brain Female	brain
8	chr4:129108600-129133600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:129110400-129134200	Weak transcription	Small Intestine	intestine
10	chr4:129112600-129133600	Weak transcription	Fetal Kidney	kidney
11	chr4:129113000-129131200	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:129113000-129141400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:129113200-129132600	Weak transcription	GM12878-XiMat	blood
14	chr4:129113200-129141400	Weak transcription	A549	lung
15	chr4:129115800-129133200	Weak transcription	Fetal Intestine Small	intestine
16	chr4:129119200-129134800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:129119200-129134800	Weak transcription	Spleen	Spleen
18	chr4:129119600-129135000	Strong transcription	Liver	Liver
19	chr4:129120000-129141800	Weak transcription	HMEC	breast
20	chr4:129120200-129133200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr4:129122400-129133000	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:129122400-129134000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:129122400-129134600	Weak transcription	Right Atrium	heart
24	chr4:129122600-129132200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr4:129122600-129133400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:129122600-129134600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:129122600-129135800	Weak transcription	Right Ventricle	heart
28	chr4:129122800-129131000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:129122800-129132400	Weak transcription	Primary T cells from cord blood	blood
30	chr4:129122800-129132600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:129122800-129135000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr4:129122800-129135200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:129122800-129135800	Weak transcription	Fetal Lung	lung
34	chr4:129122800-129141200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:129122800-129141200	Weak transcription	NHDF-Ad	bronchial
36	chr4:129122800-129141400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:129122800-129141400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:129122800-129149000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:129123000-129131200	Weak transcription	Fetal Brain Male	brain
40	chr4:129123000-129131800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr4:129123000-129132400	Weak transcription	Fetal Thymus	thymus
42	chr4:129123000-129132600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr4:129123000-129132600	Weak transcription	Psoas Muscle	Psoas
44	chr4:129123000-129133000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr4:129123000-129133200	Weak transcription	Fetal Stomach	stomach
46	chr4:129123000-129133200	Weak transcription	Pancreas	Pancrea
47	chr4:129123000-129134000	Weak transcription	Placenta	Placenta
48	chr4:129123000-129134200	Weak transcription	Esophagus	oesophagus
49	chr4:129123000-129134400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:129123000-129135800	Weak transcription	Gastric	stomach

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