Variant report

Variant	rs114860653
Chromosome Location	chr5:179713112-179713113
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179707652..179710961-chr5:179712990..179716242,3	K562	blood:
2	chr5:179707659..179712077-chr5:179712622..179717997,8	MCF-7	breast:
3	chr5:179712316..179714122-chr5:179920308..179921857,2	K562	blood:
4	chr5:179712494..179714081-chr5:179717178..179718692,2	K562	blood:

Variant related genes	Relation type
ENSG00000113300	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	esv2758032	chr5:179534477-179729944	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv2759398	chr5:179534477-179729944	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
8	nsv883290	chr5:179712060-179818868	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	esv3470273	chr5:179713002-179713849	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3470272	chr5:179713093-179713769	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3470275	chr5:179713093-179713769	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179653600-179714600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:179692800-179718000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:179694800-179717600	Weak transcription	HUVEC	blood vessel
4	chr5:179696400-179714800	Weak transcription	Fetal Brain Male	brain
5	chr5:179699000-179714600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:179702400-179714000	Strong transcription	Thymus	Thymus
7	chr5:179703000-179717400	Weak transcription	NHLF	lung
8	chr5:179703400-179714000	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:179703800-179714600	Strong transcription	Dnd41	blood
10	chr5:179704200-179714200	Strong transcription	Stomach Smooth Muscle	stomach
11	chr5:179704600-179716600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:179704600-179716600	Weak transcription	Psoas Muscle	Psoas
13	chr5:179704600-179716800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:179704600-179717200	Weak transcription	Small Intestine	intestine
15	chr5:179704600-179718000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:179705200-179717200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:179705600-179717600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:179706600-179717200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:179706600-179717200	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:179706800-179718400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr5:179707000-179713800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:179707200-179713600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:179707200-179713800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr5:179707200-179717200	Weak transcription	NHDF-Ad	bronchial
25	chr5:179707400-179717200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr5:179707600-179717600	Weak transcription	Fetal Kidney	kidney
27	chr5:179707800-179713600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:179707800-179716400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr5:179708000-179717200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:179708200-179717200	Weak transcription	HSMM	muscle
31	chr5:179708400-179717400	Weak transcription	Osteobl	bone
32	chr5:179708400-179717800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:179709000-179714000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:179709600-179715200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:179710000-179716800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr5:179710000-179717400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:179710000-179717800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr5:179710200-179716600	Weak transcription	Colonic Mucosa	Colon
39	chr5:179710200-179717000	Weak transcription	Ovary	ovary
40	chr5:179710400-179713400	Weak transcription	HSMMtube	muscle
41	chr5:179710400-179714400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr5:179710400-179716600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:179710400-179716600	Weak transcription	Esophagus	oesophagus
44	chr5:179710400-179717200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:179710400-179717200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr5:179710400-179717800	Weak transcription	Right Ventricle	heart
47	chr5:179710600-179713800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr5:179710600-179713800	Strong transcription	Fetal Stomach	stomach
49	chr5:179710600-179714000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:179710600-179714000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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