Variant report

Variant	rs112827624
Chromosome Location	chr4:7920000-7920001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7919498..7922242-chr4:7928069..7929802,2	K562	blood:
2	chr4:7913753..7915419-chr4:7919599..7921984,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv16599	chr4:7919890-7920820	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7899800-7930600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:7907800-7935800	Weak transcription	Right Ventricle	heart
3	chr4:7909200-7925400	Weak transcription	Hela-S3	cervix
4	chr4:7912000-7931200	Weak transcription	Aorta	Aorta
5	chr4:7912800-7931200	Weak transcription	Gastric	stomach
6	chr4:7913000-7927600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:7913000-7930600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:7913000-7931000	Weak transcription	Fetal Intestine Large	intestine
9	chr4:7913200-7926400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:7913600-7926200	Weak transcription	Fetal Brain Female	brain
11	chr4:7913600-7927200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:7913600-7930400	Weak transcription	NHEK	skin
13	chr4:7913800-7925600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:7914000-7926800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:7914200-7925800	Weak transcription	HSMMtube	muscle
16	chr4:7914200-7930800	Weak transcription	Fetal Kidney	kidney
17	chr4:7914400-7925600	Weak transcription	HSMM	muscle
18	chr4:7915000-7926000	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:7915000-7928200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:7915000-7930400	Weak transcription	Fetal Lung	lung
21	chr4:7916200-7921200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:7917400-7920200	Enhancers	Rectal Smooth Muscle	rectum
23	chr4:7917800-7920000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:7917800-7920000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr4:7917800-7921200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:7918200-7921200	Enhancers	Colon Smooth Muscle	Colon
27	chr4:7918400-7921000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:7918800-7921000	Enhancers	Esophagus	oesophagus
29	chr4:7918800-7930400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:7919000-7925600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:7919000-7925800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:7919000-7929000	Weak transcription	Brain Germinal Matrix	brain
33	chr4:7919200-7920200	Strong transcription	NHLF	lung
34	chr4:7919200-7930600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr4:7919400-7920000	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr4:7919400-7920000	Enhancers	Pancreas	Pancrea
37	chr4:7919400-7920400	Strong transcription	Fetal Intestine Small	intestine
38	chr4:7919400-7920400	Enhancers	Right Atrium	heart
39	chr4:7919400-7926200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr4:7919600-7920000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr4:7919600-7920000	Enhancers	Adipose Nuclei	Adipose
42	chr4:7919600-7920000	Enhancers	HMEC	breast
43	chr4:7919600-7920000	Strong transcription	Osteobl	bone
44	chr4:7919600-7920200	Genic enhancers	HUVEC	blood vessel
45	chr4:7919600-7920600	Enhancers	Lung	lung
46	chr4:7919600-7921200	Genic enhancers	A549	lung
47	chr4:7919600-7921600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:7919600-7925800	Weak transcription	Fetal Heart	heart
49	chr4:7919600-7930800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr4:7919800-7920000	Enhancers	Left Ventricle	heart

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