Variant report

Variant	rs437698
Chromosome Location	chr19:18157410-18157411
allele	C/T
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	FOSL2	chr19:18156761-18157423	MCF-7	breast:	n/a	chr19:18156997-18157008
2	FOSL2	chr19:18156728-18157447	SK-N-SH	brain:	n/a	chr19:18156997-18157008
3	JUND	chr19:18156654-18157466	SK-N-SH	brain:	n/a	chr19:18156996-18157007
4	GTF2F1	chr19:18156896-18157434	Hela-S3	cervix:	n/a	n/a
5	JUN	chr19:18156675-18157420	K562	blood:	n/a	n/a
6	RCOR1	chr19:18156717-18157701	IMR90	lung:	n/a	n/a
7	FOSL1	chr19:18156719-18157469	HCT-116	colon:	n/a	chr19:18156996-18157007
8	NR2F2	chr19:18156726-18157442	MCF-7	breast:	n/a	n/a
9	JUND	chr19:18156728-18157450	HCT-116	colon:	n/a	chr19:18156996-18157007

No.	Distal block	Cell Line	Cell type
1	chr19:18155898..18158519-chr19:18160810..18162412,2	MCF-7	breast:
2	chr19:18139671..18142320-chr19:18156075..18158513,2	MCF-7	breast:
3	chr19:18110575..18113345-chr19:18155662..18157474,2	K562	blood:

Variant related genes	Relation type
RPS18P13	TF binding region
ENSG00000105643	Chromatin interaction
ENSG00000268032	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10451485	1.00[EUR][1000 genomes]
rs11555958	1.00[EUR][1000 genomes]
rs17882031	1.00[EUR][1000 genomes]
rs431777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57757608	1.00[EUR][1000 genomes]
rs58749284	1.00[EUR][1000 genomes]
rs6512246	1.00[EUR][1000 genomes]
rs7253479	1.00[EUR][1000 genomes]
rs7255121	1.00[EUR][1000 genomes]
rs8102661	1.00[EUR][1000 genomes]
rs8103555	1.00[EUR][1000 genomes]
rs8111135	1.00[EUR][1000 genomes]
rs845379	1.00[EUR][1000 genomes]
rs9989677	1.00[EUR][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	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats 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	109 gene(s)	inside rSNPs	diseases
3	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	nsv470130	chr19:18047283-18234587	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	esv1836842	chr19:18085428-18173603	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
7	nsv911235	chr19:18143862-18175853	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv833773	chr19:18152971-18302988	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18135200-18162000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:18155800-18157800	Enhancers	A549	lung
3	chr19:18156200-18157600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr19:18156200-18157800	Enhancers	Hela-S3	cervix
5	chr19:18156200-18162000	Weak transcription	Aorta	Aorta
6	chr19:18156200-18162400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr19:18156200-18162800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:18156200-18169000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr19:18156400-18157600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr19:18156400-18157600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:18156400-18157600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr19:18156400-18157600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr19:18156400-18157600	Enhancers	Lung	lung
14	chr19:18156400-18157600	Bivalent Enhancer	HepG2	liver
15	chr19:18156400-18157600	Enhancers	NHDF-Ad	bronchial
16	chr19:18156400-18157800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr19:18156400-18157800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr19:18156400-18157800	Enhancers	Fetal Thymus	thymus
19	chr19:18156400-18158400	Enhancers	Primary B cells from peripheral blood	blood
20	chr19:18156400-18159200	Weak transcription	Brain Hippocampus Middle	brain
21	chr19:18156400-18159400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr19:18156400-18160200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:18156600-18157600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr19:18156600-18157600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr19:18156600-18157600	Enhancers	Osteobl	bone
26	chr19:18156600-18157800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:18156600-18158000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr19:18156600-18159200	Weak transcription	Liver	Liver
29	chr19:18156600-18159200	Weak transcription	Gastric	stomach
30	chr19:18156600-18159200	Weak transcription	Left Ventricle	heart
31	chr19:18156600-18159200	Weak transcription	Right Atrium	heart
32	chr19:18156600-18159200	Weak transcription	Spleen	Spleen
33	chr19:18156600-18159400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr19:18156600-18159400	Weak transcription	Pancreas	Pancrea
35	chr19:18156600-18159400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr19:18156600-18159400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr19:18156600-18159600	Weak transcription	Brain Anterior Caudate	brain
38	chr19:18156600-18159600	Weak transcription	Brain Substantia Nigra	brain
39	chr19:18156600-18159600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr19:18156600-18159800	Weak transcription	Adipose Nuclei	Adipose
41	chr19:18156600-18160400	Weak transcription	Placenta	Placenta
42	chr19:18156600-18160400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr19:18156600-18160800	Weak transcription	Small Intestine	intestine
44	chr19:18156600-18161000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:18156600-18161200	Weak transcription	Primary T cells from cord blood	blood
46	chr19:18156600-18162000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr19:18156600-18162200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr19:18156600-18162400	Weak transcription	Colonic Mucosa	Colon
49	chr19:18156600-18162400	Weak transcription	Colon Smooth Muscle	Colon
50	chr19:18156600-18162400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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