Variant report

Variant	rs72872923
Chromosome Location	chr2:47229415-47229416
allele	G/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	chr2:47229053-47230756	GM12892	blood:	n/a	n/a
2	RFX5	chr2:47228920-47231067	SK-N-SH	brain:	n/a	chr2:47229898-47229913 chr2:47229895-47229910 chr2:47229899-47229908 chr2:47229897-47229914 chr2:47229214-47229231 chr2:47229898-47229913 chr2:47229923-47229938 chr2:47229896-47229910 chr2:47229898-47229913 chr2:47229897-47229905 chr2:47229926-47229935
3	NFATC1	chr2:47229228-47229794	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:47229379-47229449	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr2:47229342-47230632	A549	lung:	n/a	n/a
6	MXI1	chr2:47228934-47230772	SK-N-SH	brain:	n/a	chr2:47229899-47229914 chr2:47229897-47229912

No.	Distal block	Cell Line	Cell type
1	chr2:47227228..47229377-chr2:47229384..47232229,2	K562	blood:
2	chr2:47227819..47229844-chr2:47253559..47255515,2	K562	blood:
3	chr2:47226708..47229516-chr2:47234175..47237170,3	K562	blood:
4	chr2:47211854..47216258-chr2:47229137..47232912,5	K562	blood:

Variant related genes	Relation type
TTC7A	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57514816	1.00[AMR][1000 genomes]
rs58268841	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72872926	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72872937	1.00[AMR][1000 genomes]
rs72872944	1.00[AMR][1000 genomes]
rs72888559	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv581750	chr2:47207665-47229953	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv525197	chr2:47210747-47297973	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv517929	chr2:47217094-47243312	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv518312	chr2:47224927-47262137	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47213600-47256400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:47214000-47262000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:47214200-47231000	Weak transcription	K562	blood
4	chr2:47214200-47235400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:47214600-47242000	Strong transcription	Thymus	Thymus
6	chr2:47214800-47229600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:47214800-47230400	Strong transcription	Osteobl	bone
8	chr2:47214800-47231200	Weak transcription	HUVEC	blood vessel
9	chr2:47214800-47233400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:47214800-47237200	Strong transcription	Primary T cells from cord blood	blood
11	chr2:47214800-47239200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:47215200-47243800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:47215400-47235800	Strong transcription	Primary B cells from cord blood	blood
14	chr2:47215600-47245200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr2:47216400-47241600	Strong transcription	Fetal Thymus	thymus
16	chr2:47219000-47229600	Strong transcription	Spleen	Spleen
17	chr2:47219600-47235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:47221600-47229600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:47222000-47260600	Weak transcription	Small Intestine	intestine
20	chr2:47222600-47229800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:47223200-47229600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:47223200-47235800	Weak transcription	Fetal Kidney	kidney
23	chr2:47223400-47229800	Weak transcription	Hela-S3	cervix
24	chr2:47223400-47238400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:47223400-47239400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr2:47223600-47235600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:47223600-47239400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:47223600-47246800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:47223800-47229600	Weak transcription	Right Ventricle	heart
30	chr2:47223800-47234200	Weak transcription	Psoas Muscle	Psoas
31	chr2:47224000-47229600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:47224000-47229600	Weak transcription	Colonic Mucosa	Colon
33	chr2:47224200-47233200	Weak transcription	GM12878-XiMat	blood
34	chr2:47224400-47229800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:47224800-47238400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:47225000-47229600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:47225000-47229800	Weak transcription	NH-A	brain
38	chr2:47225400-47229600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:47226000-47229800	Weak transcription	NHEK	skin
40	chr2:47226600-47229600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:47226600-47233000	Weak transcription	Liver	Liver
42	chr2:47226800-47229600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr2:47226800-47229800	Weak transcription	Gastric	stomach
44	chr2:47226800-47230000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:47226800-47230000	Weak transcription	HMEC	breast
46	chr2:47226800-47231000	Weak transcription	Aorta	Aorta
47	chr2:47226800-47232000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:47226800-47232600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:47227000-47229600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:47227000-47229800	Enhancers	Brain Inferior Temporal Lobe	brain

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