Variant report

Variant	rs268674
Chromosome Location	chr19:40900865-40900866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr19:40900771-40901025	GM12892	blood:	n/a	n/a
2	PAX5	chr19:40900860-40901054	GM12878	blood:	n/a	n/a
3	HMGN3	chr19:40900760-40900944	K562	blood:	n/a	n/a
4	PAX5	chr19:40900848-40901011	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40897656..40899719-chr19:40900459..40902541,2	K562	blood:
2	chr19:40898268..40902759-chr19:40908036..40910900,5	MCF-7	breast:
3	chr19:40900180..40901998-chr19:40925471..40927242,2	MCF-7	breast:
4	chr19:40899990..40902497-chr19:40903267..40905629,3	K562	blood:
5	chr19:40898297..40901896-chr19:40902195..40905165,4	MCF-7	breast:
6	chr19:40886633..40888695-chr19:40900578..40902251,2	K562	blood:
7	chr19:40899947..40901517-chr19:40949144..40950756,2	MCF-7	breast:
8	chr19:40886017..40887582-chr19:40898990..40901198,2	MCF-7	breast:
9	chr19:40899990..40902497-chr19:40903267..40905629,5	K562	blood:
10	chr19:40897692..40902504-chr19:40929009..40933470,4	MCF-7	breast:

No data

Variant related genes	Relation type
HIPK4	TF binding region
ENSG00000268366	Chromatin interaction
ENSG00000197019	Chromatin interaction
ENSG00000167565	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3730256	1.00[JPT][hapmap]
rs4150987	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer 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 miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv911707	chr19:40855255-40948202	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv911708	chr19:40855255-40982375	Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
7	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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 miRNA target site	139 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40872800-40904400	Weak transcription	Right Atrium	heart
2	chr19:40885000-40904400	Weak transcription	Fetal Lung	lung
3	chr19:40885000-40909200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:40885000-40909200	Weak transcription	Aorta	Aorta
5	chr19:40885200-40904200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:40885400-40909600	Weak transcription	Pancreas	Pancrea
7	chr19:40886800-40904200	Weak transcription	Right Ventricle	heart
8	chr19:40886800-40909200	Weak transcription	Colon Smooth Muscle	Colon
9	chr19:40887000-40909000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:40887400-40901600	Weak transcription	Fetal Intestine Small	intestine
11	chr19:40887400-40909000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr19:40887800-40901200	Weak transcription	Fetal Stomach	stomach
13	chr19:40887800-40909200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr19:40890000-40904400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:40893400-40903000	Weak transcription	Fetal Muscle Leg	muscle
16	chr19:40894800-40909000	Weak transcription	Hela-S3	cervix
17	chr19:40896200-40901800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr19:40897800-40904200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr19:40898000-40901400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:40899200-40901600	Weak transcription	Lung	lung
21	chr19:40899400-40904200	Weak transcription	Ovary	ovary
22	chr19:40899400-40904200	Weak transcription	HMEC	breast
23	chr19:40899600-40902800	Weak transcription	Spleen	Spleen
24	chr19:40899600-40904200	Weak transcription	Esophagus	oesophagus
25	chr19:40899600-40904400	Weak transcription	Gastric	stomach
26	chr19:40899800-40903200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr19:40899800-40904400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:40900200-40901200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr19:40900600-40901200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr19:40900600-40904200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr19:40900800-40901200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links