Variant report

Variant	rs34471369
Chromosome Location	chr22:31002208-31002209
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	POLR2A	chr22:31001849-31003651	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr22:31002198-31003605	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr22:31002207-31003427	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr22:31001296-31002311	A549	lung:	n/a	chr22:31001686-31001695 chr22:31001697-31001710 chr22:31001695-31001713 chr22:31001696-31001712
5	CTCF	chr22:31002140-31002290	HCPEpiC	choroid plexus:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31001608..31004689-chr22:31008894..31012791,3	K562	blood:
2	chr22:30987737..30989936-chr22:31002004..31003702,2	MCF-7	breast:
3	chr22:30934256..30936381-chr22:31000054..31002763,2	K562	blood:

Variant related genes	Relation type
TCN2	TF binding region
ENSG00000185339	Chromatin interaction
ENSG00000100029	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1131603	1.00[ASN][1000 genomes]
rs13053196	1.00[ASN][1000 genomes]
rs13058535	1.00[ASN][1000 genomes]
rs17738020	1.00[ASN][1000 genomes]
rs1807507	1.00[ASN][1000 genomes]
rs34102711	1.00[ASN][1000 genomes]
rs34886169	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34911581	1.00[ASN][1000 genomes]
rs34964064	1.00[ASN][1000 genomes]
rs35057984	1.00[ASN][1000 genomes]
rs35074129	1.00[ASN][1000 genomes]
rs35246430	1.00[ASN][1000 genomes]
rs35617977	1.00[ASN][1000 genomes]
rs35765517	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5753263	1.00[ASN][1000 genomes]
rs67384221	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68042293	1.00[ASN][1000 genomes]
rs7292248	1.00[ASN][1000 genomes]
rs73168654	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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 target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30993200-31002800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:31001000-31002800	Enhancers	Stomach Mucosa	stomach
3	chr22:31001200-31002400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr22:31001200-31002400	Enhancers	Pancreas	Pancrea
5	chr22:31001200-31002600	Flanking Active TSS	K562	blood
6	chr22:31001200-31002800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr22:31001400-31002400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr22:31001400-31002400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr22:31001400-31002400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr22:31001400-31002400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr22:31001400-31002400	Enhancers	Placenta	Placenta
12	chr22:31001400-31002400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr22:31001400-31002400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr22:31001400-31002400	Flanking Active TSS	HUVEC	blood vessel
15	chr22:31001400-31002600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr22:31001400-31002600	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr22:31001400-31002600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr22:31001400-31002600	Flanking Active TSS	Osteobl	bone
19	chr22:31001400-31002800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr22:31001400-31002800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr22:31001400-31002800	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr22:31001400-31003200	Enhancers	Spleen	Spleen
23	chr22:31001400-31003800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr22:31001400-31006400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr22:31001600-31002400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr22:31001600-31002400	Enhancers	Fetal Heart	heart
27	chr22:31001600-31002400	Enhancers	Fetal Muscle Leg	muscle
28	chr22:31001600-31002400	Weak transcription	Lung	lung
29	chr22:31001600-31002400	Enhancers	Thymus	Thymus
30	chr22:31001600-31002600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr22:31001600-31002600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr22:31001600-31002600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr22:31001600-31002800	Enhancers	Primary B cells from peripheral blood	blood
34	chr22:31001600-31002800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr22:31001600-31002800	Weak transcription	Esophagus	oesophagus
36	chr22:31001600-31002800	Weak transcription	Gastric	stomach
37	chr22:31001600-31003200	Active TSS	Psoas Muscle	Psoas
38	chr22:31001800-31002400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr22:31001800-31002400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr22:31001800-31002400	Enhancers	Brain Cingulate Gyrus	brain
41	chr22:31001800-31002400	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr22:31001800-31002400	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr22:31001800-31002400	Flanking Active TSS	Fetal Kidney	kidney
44	chr22:31001800-31002400	Enhancers	HSMM	muscle
45	chr22:31001800-31002400	Enhancers	NHEK	skin
46	chr22:31001800-31002400	Flanking Active TSS	NHLF	lung
47	chr22:31001800-31002600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr22:31001800-31002600	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr22:31001800-31002600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr22:31001800-31002600	Flanking Active TSS	Fetal Intestine Small	intestine

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