Variant report

Variant	rs485256
Chromosome Location	chr19:37338966-37338967
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr19:37338925-37339289	GM12878	blood:	n/a	n/a
2	BCL11A	chr19:37338953-37339190	GM12878	blood:	n/a	n/a
3	EP300	chr19:37338933-37339432	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37327752..37331008-chr19:37336124..37344037,12	MCF-7	breast:

Variant related genes	Relation type
ZNF345	TF binding region
ENSG00000197863	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10403877	1.00[TSI][hapmap]
rs10426229	1.00[TSI][hapmap]
rs11880022	1.00[EUR][1000 genomes]
rs11880088	1.00[EUR][1000 genomes]
rs11880159	1.00[EUR][1000 genomes]
rs11882245	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11882652	1.00[EUR][1000 genomes]
rs11882672	1.00[EUR][1000 genomes]
rs11883006	1.00[EUR][1000 genomes]
rs11883155	1.00[EUR][1000 genomes]
rs11883207	1.00[EUR][1000 genomes]
rs11883279	1.00[EUR][1000 genomes]
rs1227559	1.00[EUR][1000 genomes]
rs1227561	1.00[EUR][1000 genomes]
rs12459325	1.00[EUR][1000 genomes]
rs12459808	1.00[EUR][1000 genomes]
rs12462281	1.00[EUR][1000 genomes]
rs1625762	1.00[EUR][1000 genomes]
rs1673083	1.00[EUR][1000 genomes]
rs16971568	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16973489	1.00[EUR][1000 genomes]
rs2385414	1.00[EUR][1000 genomes]
rs2385565	1.00[EUR][1000 genomes]
rs25419	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs25420	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs487318	0.85[AFR][1000 genomes]
rs491951	0.81[AFR][1000 genomes]
rs500244	0.83[AFR][1000 genomes]
rs500370	0.85[AFR][1000 genomes]
rs504572	0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs510834	0.85[AFR][1000 genomes]
rs519455	0.85[AFR][1000 genomes]
rs526426	0.93[ASW][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs529944	0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs535477	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs562480	0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs579731	0.85[AFR][1000 genomes]
rs7508258	1.00[EUR][1000 genomes]
rs826272	0.86[YRI][hapmap];0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3517005	chr19:37193712-37364110	Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	esv3517004	chr19:37193762-37363960	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	esv3517006	chr19:37193762-37363960	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv1060155	chr19:37274915-37458788	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv544000	chr19:37274915-37458788	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
17	nsv911651	chr19:37300554-37428465	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	esv3354270	chr19:37309161-37364929	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
20	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
21	nsv458569	chr19:37331614-37412887	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv579462	chr19:37331614-37412887	Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37329800-37339000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr19:37329800-37339600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:37329800-37339600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr19:37330000-37339600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:37330000-37340000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:37330000-37340000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr19:37330000-37340000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:37330000-37340000	Weak transcription	Fetal Brain Male	brain
9	chr19:37330000-37340000	Weak transcription	Right Ventricle	heart
10	chr19:37330000-37340400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:37330000-37340400	Weak transcription	Colonic Mucosa	Colon
12	chr19:37330000-37340400	Weak transcription	Placenta	Placenta
13	chr19:37330000-37340400	Weak transcription	Stomach Mucosa	stomach
14	chr19:37330000-37340600	Weak transcription	Gastric	stomach
15	chr19:37330000-37340600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr19:37330000-37340600	Weak transcription	Spleen	Spleen
17	chr19:37330000-37340600	Weak transcription	HSMM	muscle
18	chr19:37330200-37340000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr19:37330200-37340000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:37330200-37340000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr19:37330200-37340000	Weak transcription	Osteobl	bone
22	chr19:37330200-37340200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr19:37330200-37340200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr19:37330200-37340200	Weak transcription	Brain Angular Gyrus	brain
25	chr19:37330200-37340400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr19:37330400-37339000	Weak transcription	Brain Anterior Caudate	brain
27	chr19:37330400-37340000	Weak transcription	Colon Smooth Muscle	Colon
28	chr19:37330400-37340000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr19:37330400-37340200	Weak transcription	Fetal Kidney	kidney
30	chr19:37330400-37340200	Weak transcription	HepG2	liver
31	chr19:37330400-37340200	Weak transcription	NHDF-Ad	bronchial
32	chr19:37331600-37340000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr19:37331800-37340600	Weak transcription	Psoas Muscle	Psoas
34	chr19:37332400-37340200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:37332800-37339600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:37333800-37339200	ZNF genes & repeats	Liver	Liver
37	chr19:37334000-37339000	Strong transcription	Dnd41	blood
38	chr19:37334000-37339800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr19:37334200-37339000	Weak transcription	Thymus	Thymus
40	chr19:37334400-37339000	Weak transcription	HUVEC	blood vessel
41	chr19:37334400-37339600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr19:37334400-37339600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr19:37334400-37340000	Weak transcription	Pancreas	Pancrea
44	chr19:37334400-37340200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:37334400-37340400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr19:37334400-37340400	Weak transcription	HSMMtube	muscle
47	chr19:37334400-37340600	Weak transcription	Ovary	ovary
48	chr19:37334600-37339200	Weak transcription	Primary T cells from cord blood	blood
49	chr19:37334600-37339200	Weak transcription	Brain Hippocampus Middle	brain
50	chr19:37334600-37339200	Weak transcription	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links