Variant report

Variant	rs532678061
Chromosome Location	chr2:47249522-47249523
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47248098..47250499-chr2:47402045..47403673,2	K562	blood:
2	chr2:47247534..47249636-chr2:47250357..47252583,2	MCF-7	breast:
3	chr2:47242011..47245119-chr2:47248786..47251159,3	K562	blood:
4	chr2:47246848..47250170-chr2:47255935..47259327,3	MCF-7	breast:
5	chr2:47247796..47250364-chr2:47260163..47262120,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000068724	Chromatin interaction
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv525197	chr2:47210747-47297973	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv518312	chr2:47224927-47262137	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv984532	chr2:47237908-47270533	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv581751	chr2:47243124-47255723	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv581752	chr2:47248111-47262137	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv521030	chr2:47249239-47255059	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv525855	chr2:47249239-47259467	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv457363	chr2:47249239-47263232	Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv581753	chr2:47249239-47263232	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv528091	chr2:47249239-47273732	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr2:47213600-47256400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:47214000-47262000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:47222000-47260600	Weak transcription	Small Intestine	intestine
4	chr2:47230200-47302800	Strong transcription	Dnd41	blood
5	chr2:47232000-47265000	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:47232400-47257000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:47234400-47283600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:47236000-47278600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:47236600-47253600	Strong transcription	Fetal Intestine Small	intestine
10	chr2:47236600-47259200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:47236600-47259200	Weak transcription	Fetal Kidney	kidney
12	chr2:47236800-47251600	Weak transcription	Fetal Lung	lung
13	chr2:47237000-47254200	Weak transcription	Ovary	ovary
14	chr2:47237000-47260400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:47238200-47253400	Strong transcription	Placenta Amnion	Placenta Amnion
16	chr2:47238200-47253600	Strong transcription	Duodenum Mucosa	Duodenum
17	chr2:47238200-47253800	Strong transcription	HepG2	liver
18	chr2:47240000-47249800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:47240200-47251800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:47240200-47256000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:47240800-47251400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:47241400-47250400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr2:47242200-47250400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:47242200-47253400	Weak transcription	HMEC	breast
25	chr2:47243800-47249800	Weak transcription	Hela-S3	cervix
26	chr2:47243800-47260200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:47243800-47260400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:47243800-47260800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:47243800-47261000	Weak transcription	K562	blood
30	chr2:47244000-47250600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:47244000-47252800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:47244000-47253200	Weak transcription	Stomach Mucosa	stomach
33	chr2:47244000-47254200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:47244000-47256000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:47244000-47256800	Strong transcription	Osteobl	bone
36	chr2:47244000-47257200	Weak transcription	HUVEC	blood vessel
37	chr2:47244000-47258800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr2:47244000-47260600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:47244200-47261200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:47244400-47257000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:47244600-47257000	Strong transcription	NHLF	lung
42	chr2:47244600-47258800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr2:47244800-47256200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:47244800-47256800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:47244800-47258800	Strong transcription	Placenta	Placenta
46	chr2:47245000-47255600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:47245800-47251800	Strong transcription	GM12878-XiMat	blood
48	chr2:47245800-47253000	Strong transcription	A549	lung
49	chr2:47245800-47254400	Strong transcription	Lung	lung
50	chr2:47245800-47255000	Genic enhancers	Fetal Thymus	thymus

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