Variant report

Variant	rs4245812
Chromosome Location	chr2:47263851-47263852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47243930..47246637-chr2:47261701..47264377,2	MCF-7	breast:
2	chr2:47261315..47264096-chr2:47264626..47268326,4	K562	blood:
3	chr2:47260087..47265958-chr2:47400378..47404964,8	K562	blood:
4	chr2:47263718..47266096-chr2:47402131..47404834,4	K562	blood:
5	chr2:47197603..47198444-chr2:47263258..47263910,2	MCF-7	breast:
6	chr2:47262016..47264669-chr2:47272967..47274595,2	MCF-7	breast:
7	chr2:47258480..47260174-chr2:47263659..47266616,2	K562	blood:

Variant related genes	Relation type
ENSG00000233845	Chromatin interaction
ENSG00000143933	Chromatin interaction
ENSG00000068724	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11695952	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1865257	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4953449	0.83[EUR][1000 genomes]
rs6731476	0.87[EUR][1000 genomes]
rs892378	0.81[EUR][1000 genomes]
rs892379	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
9	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47230200-47302800	Strong transcription	Dnd41	blood
2	chr2:47232000-47265000	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:47234400-47283600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:47236000-47278600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:47245800-47268600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:47246000-47283800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr2:47246800-47281600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:47251600-47265000	Strong transcription	Primary T cells from cord blood	blood
9	chr2:47251600-47266000	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr2:47252000-47283400	Strong transcription	Thymus	Thymus
11	chr2:47255600-47273400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:47256800-47264000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:47257000-47277000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:47257600-47265200	Genic enhancers	Spleen	Spleen
15	chr2:47257600-47267800	Genic enhancers	Fetal Muscle Leg	muscle
16	chr2:47258400-47268400	Genic enhancers	Fetal Thymus	thymus
17	chr2:47258400-47282600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr2:47258600-47265200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:47259200-47265000	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr2:47259400-47265000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:47259400-47266800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr2:47259600-47295000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:47260000-47266000	Enhancers	Placenta	Placenta
24	chr2:47260200-47264600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:47260800-47264000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:47261000-47264000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:47261000-47264000	Enhancers	Adipose Nuclei	Adipose
28	chr2:47261000-47264200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:47261000-47266000	Weak transcription	Aorta	Aorta
30	chr2:47261800-47264000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:47261800-47266200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:47261800-47268600	Genic enhancers	NHLF	lung
33	chr2:47261800-47273600	Weak transcription	Fetal Brain Female	brain
34	chr2:47262000-47268000	Genic enhancers	HSMM	muscle
35	chr2:47262000-47283400	Weak transcription	Fetal Brain Male	brain
36	chr2:47262000-47283600	Weak transcription	Small Intestine	intestine
37	chr2:47262200-47264800	Enhancers	Hela-S3	cervix
38	chr2:47262200-47266200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr2:47262200-47267400	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr2:47262200-47267800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr2:47262400-47265000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:47262400-47266000	Weak transcription	Brain Angular Gyrus	brain
43	chr2:47262400-47266200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:47262400-47268000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:47262400-47269000	Weak transcription	Brain Germinal Matrix	brain
46	chr2:47262600-47264600	Weak transcription	K562	blood
47	chr2:47262600-47265400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:47262600-47268200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:47262600-47268600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:47262600-47269200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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