Variant report

Variant	rs35092409
Chromosome Location	chr22:30802564-30802565
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:30802283-30802663	K562	blood:	n/a	n/a
2	POLR2A	chr22:30802237-30802660	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30800766..30803093-chr22:30820692..30823663,2	MCF-7	breast:
2	chr22:30802321..30807877-chr22:30810760..30815440,6	MCF-7	breast:
3	chr22:30801200..30804661-chr22:30818320..30820212,3	MCF-7	breast:
4	chr22:30800239..30801947-chr22:30802123..30804894,2	K562	blood:
5	chr22:30801331..30806439-chr22:30816907..30821751,5	K562	blood:
6	chr22:30792691..30796123-chr22:30800325..30803316,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249590	TF binding region
SEC14L2	TF binding region
ENSG00000242114	Chromatin interaction
ENSG00000272689	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000222915	Chromatin interaction
ENSG00000268538	Chromatin interaction
ENSG00000100003	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11703916	0.80[EUR][1000 genomes]
rs11705056	0.80[EUR][1000 genomes]
rs11705290	0.80[EUR][1000 genomes]
rs41281641	0.86[EUR][1000 genomes]
rs45595946	0.86[EUR][1000 genomes]
rs56059256	0.80[EUR][1000 genomes]
rs56186404	0.86[EUR][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	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription 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	51 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30794000-30816600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:30794000-30818000	Weak transcription	Right Atrium	heart
3	chr22:30794400-30811800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr22:30794600-30803200	Weak transcription	Fetal Brain Male	brain
5	chr22:30794600-30803200	Weak transcription	Lung	lung
6	chr22:30794600-30811400	Weak transcription	Right Ventricle	heart
7	chr22:30794800-30802800	Weak transcription	Hela-S3	cervix
8	chr22:30794800-30811400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr22:30794800-30811600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr22:30794800-30818600	Weak transcription	Primary B cells from cord blood	blood
11	chr22:30795000-30802600	Weak transcription	Fetal Lung	lung
12	chr22:30795000-30809800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr22:30795000-30814600	Weak transcription	Colon Smooth Muscle	Colon
14	chr22:30795200-30803000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr22:30795200-30804600	Weak transcription	NHDF-Ad	bronchial
16	chr22:30795200-30804800	Weak transcription	Pancreas	Pancrea
17	chr22:30795200-30807800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr22:30795200-30809000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr22:30795200-30810200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr22:30795200-30811600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr22:30795200-30814400	Weak transcription	Small Intestine	intestine
22	chr22:30795400-30803200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr22:30795400-30812000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr22:30796000-30803200	Weak transcription	Spleen	Spleen
25	chr22:30796000-30813400	Weak transcription	Fetal Kidney	kidney
26	chr22:30796200-30804400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr22:30796200-30811400	Weak transcription	Placenta	Placenta
28	chr22:30796400-30803200	Weak transcription	Esophagus	oesophagus
29	chr22:30797000-30804400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr22:30797200-30804600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr22:30797400-30803200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr22:30797600-30803200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr22:30797800-30803600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr22:30797800-30804600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr22:30797800-30805000	Genic enhancers	HMEC	breast
36	chr22:30797800-30816400	Strong transcription	Dnd41	blood
37	chr22:30798000-30804000	Strong transcription	NHEK	skin
38	chr22:30798200-30802600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr22:30798200-30802600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr22:30798200-30802800	Enhancers	HepG2	liver
41	chr22:30798200-30805000	Weak transcription	Ovary	ovary
42	chr22:30798400-30803200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr22:30798400-30803200	Weak transcription	A549	lung
44	chr22:30798600-30802600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr22:30798600-30802800	Weak transcription	HUVEC	blood vessel
46	chr22:30798600-30802800	Weak transcription	NH-A	brain
47	chr22:30798600-30803000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr22:30798600-30803000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr22:30798600-30803000	Weak transcription	Fetal Muscle Leg	muscle
50	chr22:30798600-30803200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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