Variant report

Variant	rs10119
Chromosome Location	chr19:45406673-45406674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:45406564-45408390	GM12892	blood:	n/a	n/a
2	POLR2A	chr19:45406480-45408437	K562	blood:	n/a	n/a
3	POLR2A	chr19:45405203-45410051	K562	blood:	n/a	n/a
4	POLR2A	chr19:45405561-45409156	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr19:45405620-45409311	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr19:45406562-45406836	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:45405457-45408484	GM12892	blood:	n/a	n/a
8	POLR2A	chr19:45406490-45406864	GM12878	blood:	n/a	n/a
9	CTCF	chr19:45406640-45406790	GM12873	blood:	n/a	n/a
10	POLR2A	chr19:45405893-45410103	K562	blood:	n/a	n/a
11	ZBTB7A	chr19:45406438-45406689	K562	blood:	n/a	n/a
12	POLR2A	chr19:45406477-45408463	GM12892	blood:	n/a	n/a
13	CTCF	chr19:45406671-45406785	GM10266	blood:	n/a	n/a
14	POLR2A	chr19:45406504-45408412	GM12878	blood:	n/a	n/a
15	CTCF	chr19:45406540-45406690	HMEC	breast:	n/a	n/a
16	POLR2A	chr19:45406590-45408154	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:45405322-45406885	K562	blood:	n/a	n/a
18	POLR2A	chr19:45405435-45408468	GM12891	blood:	n/a	n/a
19	CTCF	chr19:45406653-45408469	A549	lung:	n/a	chr19:45407030-45407046 chr19:45407029-45407047 chr19:45407031-45407052 chr19:45407026-45407039 chr19:45407032-45407045
20	POLR2A	chr19:45406453-45408271	K562	blood:	n/a	n/a
21	POLR2A	chr19:45406406-45409102	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr19:45406450-45409309	PANC-1	pancreas:	n/a	n/a
23	CTCF	chr19:45406540-45406690	GM12872	blood:	n/a	n/a
24	POLR2A	chr19:45406644-45408363	K562	blood:	n/a	n/a
25	POLR2A	chr19:45406603-45406812	H1-hESC	embryonic stem cell:	n/a	n/a
26	SP1	chr19:45406215-45406860	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr19:45406673-45406702	Spleen_OC	spleen:	n/a	n/a
28	POLR2A	chr19:45406510-45408334	GM12891	blood:	n/a	n/a
29	POLR2A	chr19:45405484-45410277	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAZ	chr19:45406375-45407427	IMR90	lung:	n/a	n/a
31	POLR2A	chr19:45406511-45408437	K562	blood:	n/a	n/a
32	POLR2A	chr19:45405993-45406849	A549	lung:	n/a	n/a
33	POLR2A	chr19:45406577-45406755	A549	lung:	n/a	n/a
34	POLR2A	chr19:45405967-45406842	HepG2	liver:	n/a	n/a
35	POLR2A	chr19:45405446-45408522	GM12892	blood:	n/a	n/a
36	BCL3	chr19:45406608-45408483	A549	lung:	n/a	chr19:45407172-45407181 chr19:45407536-45407545
37	SIX5	chr19:45406655-45408387	A549	lung:	n/a	n/a
38	POLR2A	chr19:45406657-45408347	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr19:45406540-45406690	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr19:45405544-45408469	GM12891	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45406597..45407482-chr19:45454723..45455538,4	MCF-7	breast:
2	chr19:45405446..45407479-chr19:45558545..45561751,3	K562	blood:
3	chr19:45406582..45407489-chr19:45492129..45492712,2	K562	blood:
4	chr19:45406430..45407977-chr19:45445993..45448710,2	K562	blood:
5	chr19:45406430..45412448-chr19:45445993..45451546,6	K562	blood:
6	chr19:45406398..45408162-chr19:45456600..45459438,2	K562	blood:
7	chr19:45404737..45407317-chr19:45408582..45411169,3	MCF-7	breast:
8	chr19:45406329..45407317-chr19:45454544..45455390,2	MCF-7	breast:
9	chr19:45400598..45402586-chr19:45404857..45407837,2	MCF-7	breast:
10	chr19:45406575..45407498-chr19:45841582..45842395,3	K562	blood:
11	chr19:45393575..45396068-chr19:45405116..45407648,2	MCF-7	breast:
12	chr19:45404348..45407095-chr19:45456355..45459053,2	K562	blood:
13	chr19:45406133..45407518-chr19:45454532..45455483,6	K562	blood:
14	chr19:45405563..45412018-chr19:45456830..45459683,7	MCF-7	breast:
15	chr19:45396519..45400631-chr19:45405107..45409651,5	MCF-7	breast:

No data

Variant related genes	Relation type
APOE	TF binding region
ENSG00000130203	Chromatin interaction
ENSG00000130204	Chromatin interaction
ENSG00000104853	Chromatin interaction
ENSG00000234906	Chromatin interaction
ENSG00000267282	Chromatin interaction
ENSG00000267114	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11556505	0.82[CHB][hapmap]
rs429358	0.87[ASN][1000 genomes]
rs769449	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912129	chr19:45379791-45448465	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv912130	chr19:45382034-45448465	Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv912131	chr19:45391582-45415640	Flanking Active TSS Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv912132	chr19:45393473-45415640	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv912133	chr19:45395619-45482884	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv912134	chr19:45395619-45528799	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45395800-45407200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:45396000-45406800	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr19:45396000-45406800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr19:45396000-45406800	Strong transcription	Fetal Intestine Large	intestine
5	chr19:45396000-45406800	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr19:45396000-45407000	Weak transcription	Stomach Mucosa	stomach
7	chr19:45396000-45408600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr19:45396200-45406800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr19:45396200-45406800	Strong transcription	Fetal Muscle Leg	muscle
10	chr19:45396200-45407000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr19:45396200-45407000	Strong transcription	Fetal Stomach	stomach
12	chr19:45396200-45407600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:45396400-45406800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:45396400-45406800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr19:45396400-45406800	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr19:45396400-45407000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr19:45396600-45406800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr19:45396600-45406800	Strong transcription	Gastric	stomach
19	chr19:45396600-45406800	Strong transcription	Lung	lung
20	chr19:45396600-45407000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr19:45396600-45407000	Strong transcription	Fetal Intestine Small	intestine
22	chr19:45396600-45407600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:45396800-45407800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr19:45397000-45406800	Strong transcription	Dnd41	blood
25	chr19:45397000-45408400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr19:45397000-45408800	Weak transcription	Psoas Muscle	Psoas
27	chr19:45397200-45406800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr19:45397600-45407800	Weak transcription	Primary B cells from cord blood	blood
29	chr19:45398200-45407200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:45398600-45407000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:45399600-45408200	Weak transcription	Fetal Brain Male	brain
32	chr19:45399800-45407200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr19:45400000-45407800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr19:45400200-45407600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr19:45400400-45414200	Weak transcription	Hela-S3	cervix
36	chr19:45400600-45409000	Weak transcription	Fetal Kidney	kidney
37	chr19:45401400-45408800	Weak transcription	Right Atrium	heart
38	chr19:45401600-45407000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr19:45403200-45406800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr19:45403200-45406800	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr19:45403200-45406800	Strong transcription	Thymus	Thymus
42	chr19:45403200-45407000	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr19:45403400-45407600	Strong transcription	GM12878-XiMat	blood
44	chr19:45403600-45407000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:45403600-45407200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr19:45403600-45407200	Weak transcription	NHDF-Ad	bronchial
47	chr19:45403600-45409000	Weak transcription	HSMM	muscle
48	chr19:45404000-45407200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:45404200-45407000	Weak transcription	K562	blood
50	chr19:45404400-45408600	Weak transcription	Primary hematopoietic stem cells	blood

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