Variant report

Variant	rs17194220
Chromosome Location	chr4:8387509-8387510
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8385149..8387717-chr4:8393140..8395716,2	K562	blood:
2	chr4:8359754..8361327-chr4:8385821..8388152,2	MCF-7	breast:
3	chr4:8385799..8388766-chr4:8429513..8431932,2	K562	blood:
4	chr4:8380860..8383722-chr4:8386573..8388850,2	K562	blood:

Variant related genes	Relation type
ENSG00000251615	Chromatin interaction
ENSG00000202054	Chromatin interaction
ENSG00000087008	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10029771	1.00[CEU][hapmap]
rs1060617	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1106591	0.83[AMR][1000 genomes]
rs13434465	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs16842352	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17201848	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17202499	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17203215	1.00[CEU][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs17203243	0.80[EUR][1000 genomes]
rs17806817	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17806883	1.00[EUR][1000 genomes]
rs17807929	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17807994	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28507650	1.00[EUR][1000 genomes]
rs28664136	1.00[EUR][1000 genomes]
rs61739067	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286000	1.00[AFR][1000 genomes]
rs62286002	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286003	1.00[EUR][1000 genomes]
rs62286005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286035	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286036	1.00[EUR][1000 genomes]
rs62286037	1.00[EUR][1000 genomes]
rs62286038	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286040	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286041	1.00[EUR][1000 genomes]
rs62286042	1.00[EUR][1000 genomes]
rs62286043	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286044	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286047	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286049	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286050	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286052	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286053	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286054	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286055	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286056	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286058	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286059	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62287360	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62287361	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62287362	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62287382	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287383	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287384	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287385	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287387	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287390	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287392	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287393	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287394	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287395	0.83[AMR][1000 genomes]
rs62287396	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287397	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62287399	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62287401	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62287402	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62287405	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62287406	0.80[EUR][1000 genomes]
rs62287433	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62287434	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62287436	0.80[EUR][1000 genomes]
rs747579	1.00[CEU][hapmap]
rs7686109	1.00[EUR][1000 genomes]
rs940132	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv461219	chr4:8353829-8390646	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv593637	chr4:8353829-8390646	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv878609	chr4:8373832-8407406	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats 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
13	nsv878610	chr4:8377058-8416976	ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
14	esv1005399	chr4:8387281-8397983	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8360400-8394000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:8360400-8395600	Weak transcription	NHEK	skin
3	chr4:8362000-8395400	Weak transcription	Fetal Brain Male	brain
4	chr4:8364000-8388600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:8364800-8392400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:8365600-8388800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr4:8366400-8411600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:8366800-8390000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr4:8368400-8388400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:8368800-8388800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr4:8372600-8389800	Strong transcription	Esophagus	oesophagus
12	chr4:8373000-8388200	Weak transcription	Osteobl	bone
13	chr4:8373400-8401600	Strong transcription	Fetal Intestine Small	intestine
14	chr4:8375000-8401600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:8377000-8388800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:8378000-8391800	Strong transcription	Fetal Brain Female	brain
17	chr4:8378600-8398600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:8378600-8398800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr4:8378800-8397800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:8379000-8395400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:8379400-8392000	Strong transcription	Brain Hippocampus Middle	brain
22	chr4:8379600-8388400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:8381000-8393800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:8381200-8387600	Genic enhancers	Fetal Muscle Trunk	muscle
25	chr4:8381600-8392400	Strong transcription	Brain Cingulate Gyrus	brain
26	chr4:8381800-8394400	Strong transcription	Brain Germinal Matrix	brain
27	chr4:8381800-8398600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:8382400-8401600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:8383200-8388000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:8383200-8388200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:8383400-8388200	Weak transcription	Brain Substantia Nigra	brain
32	chr4:8383600-8387600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:8383800-8419000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr4:8384000-8387600	Genic enhancers	Placenta	Placenta
35	chr4:8384000-8388400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr4:8384000-8394600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:8384000-8395600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:8384000-8399600	Strong transcription	Spleen	Spleen
39	chr4:8384800-8387600	Enhancers	Left Ventricle	heart
40	chr4:8384800-8390000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:8384800-8391000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:8384800-8392000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:8384800-8401600	Strong transcription	Thymus	Thymus
44	chr4:8384800-8418600	Strong transcription	Primary T cells from cord blood	blood
45	chr4:8385000-8387800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:8385000-8387800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr4:8385000-8388400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr4:8385200-8395200	Weak transcription	Fetal Kidney	kidney
49	chr4:8385200-8411600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr4:8385400-8388800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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