Variant report

Variant	rs34870129
Chromosome Location	chr4:7008790-7008791
allele	A/G
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	chr4:7008164..7009883-chr4:7043659..7046300,2	K562	blood:
3	chr4:7004705..7009453-chr4:7009806..7014166,7	K562	blood:
4	chr4:6989598..6991738-chr4:7007469..7010160,2	K562	blood:

Variant related genes	Relation type
ENSG00000173011	Chromatin interaction
ENSG00000173013	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16839513	1.00[ASW][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16839530	0.83[LWK][hapmap];1.00[MEX][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16839532	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16839553	0.90[AMR][1000 genomes]
rs16839564	0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4423873	1.00[ASW][hapmap]
rs6811744	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6819148	1.00[MEX][hapmap];0.81[MKK][hapmap]
rs6835187	0.84[AFR][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:127 , 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	chr4:6994000-7035600	Strong transcription	Fetal Stomach	stomach
4	chr4:6994000-7043200	Weak transcription	Right Atrium	heart
5	chr4:6994200-7035400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:6994400-7013400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:6994600-7021400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:6995000-7009200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:6995000-7020800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:6995400-7013600	Strong transcription	Fetal Thymus	thymus
11	chr4:6995800-7032800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:6996000-7014800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr4:6996000-7035200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:6996400-7034800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:6996600-7021400	Strong transcription	Brain Germinal Matrix	brain
16	chr4:6997800-7013800	Strong transcription	Thymus	Thymus
17	chr4:7000200-7021600	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:7000600-7034400	Strong transcription	Dnd41	blood
19	chr4:7001200-7010600	Weak transcription	Fetal Heart	heart
20	chr4:7001200-7010800	Weak transcription	Small Intestine	intestine
21	chr4:7001400-7010400	Weak transcription	NHDF-Ad	bronchial
22	chr4:7001400-7034600	Strong transcription	Primary T cells from cord blood	blood
23	chr4:7001600-7009600	Weak transcription	Stomach Mucosa	stomach
24	chr4:7001600-7017200	Strong transcription	Placenta	Placenta
25	chr4:7001600-7035200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr4:7001600-7035400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr4:7001800-7020000	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr4:7001800-7029000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr4:7001800-7035000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr4:7002000-7034400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr4:7002200-7020600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr4:7002200-7035400	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr4:7002400-7034400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr4:7003400-7013800	Strong transcription	Spleen	Spleen
35	chr4:7003600-7009400	Strong transcription	Fetal Muscle Trunk	muscle
36	chr4:7003600-7032600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr4:7003800-7008800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:7003800-7010400	Weak transcription	Fetal Brain Male	brain
39	chr4:7003800-7010600	Weak transcription	Ovary	ovary
40	chr4:7004000-7010600	Weak transcription	Pancreas	Pancrea
41	chr4:7004000-7014800	Weak transcription	Fetal Lung	lung
42	chr4:7004400-7008800	Weak transcription	Hela-S3	cervix
43	chr4:7004400-7011600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr4:7004400-7016200	Weak transcription	Fetal Kidney	kidney
45	chr4:7004600-7009000	Weak transcription	NHLF	lung
46	chr4:7004800-7008800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:7005000-7008800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr4:7005000-7009400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:7005200-7010600	Strong transcription	Fetal Muscle Leg	muscle
50	chr4:7005400-7012400	Weak transcription	HUVEC	blood vessel

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