Variant report

Variant	rs6845319
Chromosome Location	chr4:8276349-8276350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8266213..8269192-chr4:8274192..8276756,2	K562	blood:
2	chr4:8276309..8277181-chr4:8404667..8405454,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11736323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13104330	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13105257	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13105264	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120925	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13135847	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13150043	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5018092	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6833227	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6833375	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7655419	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7655880	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7656555	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7669801	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7687933	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv461216	chr4:8154534-8276411	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv593626	chr4:8154534-8276411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv878597	chr4:8171401-8294196	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv878599	chr4:8195705-8293398	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv593627	chr4:8202211-8311043	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv878600	chr4:8209447-8312158	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
13	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
14	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
15	nsv461218	chr4:8254784-8320126	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
16	nsv593628	chr4:8254784-8320126	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
17	nsv593630	chr4:8271251-8280040	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
18	nsv593633	chr4:8271302-8280040	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8271000-8276400	Enhancers	Spleen	Spleen
2	chr4:8272600-8278400	Weak transcription	A549	lung
3	chr4:8272600-8282200	Enhancers	Primary hematopoietic stem cells	blood
4	chr4:8272800-8283400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:8273000-8276800	Weak transcription	Psoas Muscle	Psoas
6	chr4:8273400-8276400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:8273400-8284000	Enhancers	Fetal Muscle Leg	muscle
8	chr4:8273600-8280000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:8273800-8276400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr4:8273800-8283800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:8273800-8287400	Enhancers	Fetal Heart	heart
12	chr4:8274000-8277400	Enhancers	Fetal Intestine Small	intestine
13	chr4:8274200-8281800	Enhancers	Placenta	Placenta
14	chr4:8274600-8276800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr4:8274600-8279600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr4:8274600-8281200	Enhancers	Colon Smooth Muscle	Colon
17	chr4:8274800-8277000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr4:8274800-8277000	Weak transcription	Esophagus	oesophagus
19	chr4:8274800-8278000	Weak transcription	Gastric	stomach
20	chr4:8274800-8278400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:8274800-8280000	Enhancers	Right Ventricle	heart
22	chr4:8274800-8281400	Enhancers	Ovary	ovary
23	chr4:8275000-8276800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:8275000-8277000	Weak transcription	Lung	lung
25	chr4:8275000-8280000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr4:8275000-8280200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr4:8275000-8280600	Enhancers	Rectal Smooth Muscle	rectum
28	chr4:8275200-8276600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:8275200-8276800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:8275200-8277000	Enhancers	Fetal Stomach	stomach
31	chr4:8275200-8278000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:8275200-8278400	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr4:8275200-8279600	Weak transcription	HUVEC	blood vessel
34	chr4:8275200-8279800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr4:8275200-8281200	Enhancers	Adipose Nuclei	Adipose
36	chr4:8275600-8277600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:8275600-8283800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:8275800-8276600	Enhancers	Liver	Liver
39	chr4:8275800-8277200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:8275800-8277200	Enhancers	Brain Germinal Matrix	brain
41	chr4:8275800-8277400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr4:8275800-8278200	Enhancers	Duodenum Mucosa	Duodenum
43	chr4:8275800-8281600	Enhancers	NHDF-Ad	bronchial
44	chr4:8276000-8276400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:8276000-8276400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr4:8276000-8276600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:8276000-8277400	Enhancers	Fetal Intestine Large	intestine
48	chr4:8276000-8277400	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr4:8276000-8279800	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr4:8276000-8280400	Enhancers	Left Ventricle	heart

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