Variant report

Variant	rs2385919
Chromosome Location	chr4:8081263-8081264
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8072811..8078672-chr4:8079425..8083106,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163995	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2249919	1.00[CHB][hapmap]
rs7686189	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv469779	chr4:7965253-8177646	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv482448	chr4:7965253-8177646	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv829852	chr4:7991906-8151267	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv470009	chr4:8015421-8085174	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv878581	chr4:8021592-8100272	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv878585	chr4:8023484-8116202	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv878586	chr4:8023484-8148159	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv878589	chr4:8034772-8089598	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv878591	chr4:8063501-8207083	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8070200-8082200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:8073200-8099400	Weak transcription	Psoas Muscle	Psoas
3	chr4:8074800-8082000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:8075200-8081400	Weak transcription	Esophagus	oesophagus
5	chr4:8075200-8081400	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:8075200-8082600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:8075400-8082600	Weak transcription	Pancreas	Pancrea
8	chr4:8078200-8081400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:8078200-8085400	Weak transcription	Fetal Brain Female	brain
10	chr4:8078400-8081400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:8078600-8095800	Weak transcription	Aorta	Aorta
12	chr4:8079000-8085200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr4:8080000-8081400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:8080000-8081400	Enhancers	Ovary	ovary
15	chr4:8080000-8082000	Enhancers	Fetal Brain Male	brain
16	chr4:8080000-8082800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr4:8080000-8083200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:8080200-8081400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr4:8080200-8081600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr4:8080200-8082400	Enhancers	Fetal Lung	lung
21	chr4:8080200-8083800	Enhancers	Fetal Heart	heart
22	chr4:8080200-8084600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr4:8080400-8081600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:8080400-8081600	Enhancers	Brain Angular Gyrus	brain
25	chr4:8080400-8081800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:8080400-8082600	Bivalent Enhancer	Placenta	Placenta
27	chr4:8080400-8083200	Enhancers	Left Ventricle	heart
28	chr4:8080600-8081400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:8080600-8081400	Enhancers	Duodenum Mucosa	Duodenum
30	chr4:8080600-8081400	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr4:8080600-8081400	Enhancers	K562	blood
32	chr4:8080600-8081800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
33	chr4:8080600-8081800	Enhancers	Brain Germinal Matrix	brain
34	chr4:8080600-8082200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:8080600-8083800	Genic enhancers	Spleen	Spleen
36	chr4:8080600-8084200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:8080600-8085200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
38	chr4:8080800-8081400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:8080800-8081600	Enhancers	Stomach Mucosa	stomach
40	chr4:8080800-8082800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:8080800-8084000	Enhancers	Right Ventricle	heart
42	chr4:8081000-8081400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:8081000-8081400	Enhancers	Lung	lung
44	chr4:8081000-8081600	Enhancers	Gastric	stomach
45	chr4:8081000-8081600	Enhancers	Right Atrium	heart
46	chr4:8081000-8081800	Weak transcription	Brain Anterior Caudate	brain
47	chr4:8081000-8082000	Weak transcription	Brain Cingulate Gyrus	brain

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