Variant report

Variant	rs6819148
Chromosome Location	chr4:7007461-7007462
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:6989642..6991738-chr4:7006793..7008969,2	K562	blood:
2	chr4:6996646..6998293-chr4:7006108..7007846,2	K562	blood:
3	chr4:7004705..7009453-chr4:7009806..7014166,7	K562	blood:
4	chr4:6994292..6996377-chr4:7005906..7008194,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132405	Chromatin interaction
ENSG00000187904	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16839511	1.00[EUR][1000 genomes]
rs16839513	1.00[MEX][hapmap];0.90[MKK][hapmap]
rs16839530	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16839532	1.00[MEX][hapmap]
rs16839553	1.00[EUR][1000 genomes]
rs2301819	0.89[LWK][hapmap]
rs28655367	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34870129	1.00[MEX][hapmap];0.81[MKK][hapmap]
rs3892978	1.00[EUR][1000 genomes]
rs41365350	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs41394850	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs41499144	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs4689583	1.00[GIH][hapmap]
rs4689584	1.00[GIH][hapmap]
rs58027198	1.00[EUR][1000 genomes]
rs60263546	1.00[EUR][1000 genomes]
rs9992991	0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv593547	chr4:7002344-7032180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv878531	chr4:7006541-7129556	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6990400-7008800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:6991000-7021800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:6993800-7008400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr4:6994000-7008600	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:6994000-7035600	Strong transcription	Fetal Stomach	stomach
6	chr4:6994000-7043200	Weak transcription	Right Atrium	heart
7	chr4:6994200-7035400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:6994400-7013400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:6994600-7021400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:6994800-7007600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr4:6995000-7009200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:6995000-7020800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:6995200-7008400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:6995200-7008600	Strong transcription	Fetal Intestine Small	intestine
15	chr4:6995400-7007800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:6995400-7008600	Strong transcription	Fetal Intestine Large	intestine
17	chr4:6995400-7013600	Strong transcription	Fetal Thymus	thymus
18	chr4:6995800-7008200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:6995800-7008400	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:6995800-7032800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:6996000-7014800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr4:6996000-7035200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:6996400-7034800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:6996600-7021400	Strong transcription	Brain Germinal Matrix	brain
25	chr4:6997800-7013800	Strong transcription	Thymus	Thymus
26	chr4:7000200-7021600	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:7000400-7008200	Strong transcription	HepG2	liver
28	chr4:7000600-7007600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:7000600-7034400	Strong transcription	Dnd41	blood
30	chr4:7001200-7010600	Weak transcription	Fetal Heart	heart
31	chr4:7001200-7010800	Weak transcription	Small Intestine	intestine
32	chr4:7001400-7010400	Weak transcription	NHDF-Ad	bronchial
33	chr4:7001400-7034600	Strong transcription	Primary T cells from cord blood	blood
34	chr4:7001600-7008200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:7001600-7009600	Weak transcription	Stomach Mucosa	stomach
36	chr4:7001600-7017200	Strong transcription	Placenta	Placenta
37	chr4:7001600-7035200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr4:7001600-7035400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr4:7001800-7020000	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr4:7001800-7029000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr4:7001800-7035000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr4:7002000-7034400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr4:7002200-7020600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr4:7002200-7035400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr4:7002400-7034400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr4:7002800-7008200	Weak transcription	A549	lung
47	chr4:7003400-7013800	Strong transcription	Spleen	Spleen
48	chr4:7003600-7009400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr4:7003600-7032600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr4:7003800-7008000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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