Variant report

Variant	rs547155431
Chromosome Location	chr1:209931176-209931177
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	chr1:209929084-209933092	GM18505	blood:	n/a	n/a
2	POLR2A	chr1:209928692-209932543	GM12891	blood:	n/a	n/a
3	WRNIP1	chr1:209929394-209931411	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:209929032-209933590	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
TRAF3IP3	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS 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 target site	27 gene(s)	inside rSNPs	diseases
4	nsv1006632	chr1:209886202-209970355	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1001588	chr1:209908876-209938243	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv4343	chr1:209929932-209974877	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209921800-209940800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:209921800-209942000	Weak transcription	Pancreas	Pancrea
3	chr1:209922400-209931200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:209928600-209932000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr1:209928600-209932200	Flanking Active TSS	GM12878-XiMat	blood
6	chr1:209928800-209932200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr1:209928800-209932400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr1:209929000-209931200	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr1:209929000-209931800	Active TSS	Duodenum Mucosa	Duodenum
10	chr1:209929000-209932000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr1:209929000-209932200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:209929000-209932200	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr1:209929000-209932400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:209929000-209932800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:209929200-209931200	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr1:209929200-209931400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:209929200-209931400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr1:209929400-209931200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:209929400-209931200	Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr1:209929400-209931200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:209929400-209931400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr1:209929400-209931400	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr1:209929400-209931400	Active TSS	Colonic Mucosa	Colon
24	chr1:209929400-209931800	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr1:209929400-209931800	Active TSS	Rectal Smooth Muscle	rectum
26	chr1:209929600-209931200	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr1:209929600-209931400	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr1:209930200-209932600	Weak transcription	Right Ventricle	heart
29	chr1:209930200-209934600	Weak transcription	Right Atrium	heart
30	chr1:209930200-209935000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
31	chr1:209930400-209931600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:209930400-209931800	Transcr. at gene 5' and 3'	Dnd41	blood
33	chr1:209930400-209932200	Flanking Active TSS	Thymus	Thymus
34	chr1:209930800-209931200	Weak transcription	Fetal Heart	heart
35	chr1:209930800-209931800	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr1:209930800-209932200	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
37	chr1:209930800-209932200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:209930800-209932600	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:209930800-209933000	Weak transcription	Fetal Intestine Small	intestine
40	chr1:209930800-209938800	Weak transcription	Fetal Intestine Large	intestine
41	chr1:209931000-209931200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr1:209931000-209931600	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:209931000-209932000	Enhancers	Spleen	Spleen
44	chr1:209931000-209932200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
45	chr1:209931000-209933000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
46	chr1:209931000-209941800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:209931000-209942000	Weak transcription	Esophagus	oesophagus
48	chr1:209931000-209943200	Weak transcription	Lung	lung
49	chr1:209931000-209943600	Weak transcription	Gastric	stomach

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