Variant report

Variant	rs147031511
Chromosome Location	chr4:8237256-8237257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8233606..8235264-chr4:8235764..8238250,2	MCF-7	breast:
2	chr4:8230516..8235728-chr4:8236550..8239148,4	MCF-7	breast:
3	chr4:8236579..8238924-chr4:8243496..8245332,2	K562	blood:
4	chr4:8201531..8203736-chr4:8237028..8240221,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125089	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv461216	chr4:8154534-8276411	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv593626	chr4:8154534-8276411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv878596	chr4:8171401-8254784	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv878597	chr4:8171401-8294196	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers 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 miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv878598	chr4:8195705-8254784	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv878599	chr4:8195705-8293398	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	esv2763338	chr4:8199091-8260812	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv593627	chr4:8202211-8311043	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv878600	chr4:8209447-8312158	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
15	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
17	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
18	esv3339697	chr4:8233552-8238150	Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3363340	chr4:8234052-8237750	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv3438872	chr4:8237102-8239900	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8228400-8240400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:8228400-8240800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:8228400-8243800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:8228800-8244200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:8230600-8239400	Strong transcription	Fetal Intestine Small	intestine
6	chr4:8230600-8243800	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:8230800-8238000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:8230800-8240400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:8230800-8242800	Weak transcription	NHLF	lung
10	chr4:8230800-8244200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:8230800-8244200	Weak transcription	Left Ventricle	heart
12	chr4:8230800-8244200	Weak transcription	Right Atrium	heart
13	chr4:8231000-8239600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:8231000-8241000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr4:8231000-8243800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:8231000-8243800	Weak transcription	Brain Angular Gyrus	brain
17	chr4:8231200-8239800	Weak transcription	A549	lung
18	chr4:8231400-8237800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr4:8232000-8243600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr4:8232200-8244200	Strong transcription	HUVEC	blood vessel
21	chr4:8232400-8241400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr4:8232600-8239200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:8232600-8240000	Strong transcription	Placenta	Placenta
24	chr4:8232800-8239400	Strong transcription	Fetal Intestine Large	intestine
25	chr4:8232800-8241800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:8232800-8242000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:8232800-8243800	Strong transcription	Lung	lung
28	chr4:8232800-8244200	Strong transcription	HMEC	breast
29	chr4:8233000-8237600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:8233000-8240200	Strong transcription	Gastric	stomach
31	chr4:8233000-8243400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:8233000-8243800	Strong transcription	Liver	Liver
33	chr4:8233000-8244000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr4:8233200-8243800	Strong transcription	Fetal Stomach	stomach
35	chr4:8233600-8237600	Genic enhancers	Fetal Thymus	thymus
36	chr4:8233800-8238000	Strong transcription	Primary hematopoietic stem cells	blood
37	chr4:8233800-8239400	Strong transcription	Spleen	Spleen
38	chr4:8234000-8237400	Strong transcription	NHEK	skin
39	chr4:8234000-8239400	Strong transcription	Esophagus	oesophagus
40	chr4:8234000-8241800	Strong transcription	Adipose Nuclei	Adipose
41	chr4:8234000-8243200	Strong transcription	Pancreas	Pancrea
42	chr4:8234200-8239600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr4:8234200-8240400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr4:8234200-8241600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:8234200-8243800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr4:8234400-8239400	Weak transcription	Fetal Brain Male	brain
47	chr4:8234400-8243400	Strong transcription	Right Ventricle	heart
48	chr4:8234600-8237600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:8234600-8238600	Strong transcription	Primary T cells from cord blood	blood
50	chr4:8234600-8239000	Strong transcription	Sigmoid Colon	Sigmoid Colon

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