Variant report

Variant	rs72811508
Chromosome Location	chr2:48095575-48095576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48094553..48096950-chr2:48122289..48123952,2	K562	blood:
2	chr2:48093751..48095928-chr2:48132112..48133752,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233230	Chromatin interaction
ENSG00000138081	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17037016	1.00[AMR][1000 genomes]
rs2020910	1.00[AFR][1000 genomes]
rs55690709	1.00[AMR][1000 genomes]
rs72811506	1.00[AFR][1000 genomes]
rs72811510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72811511	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998096	chr2:47939614-48131697	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv930955	chr2:48040218-48121218	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523013	chr2:48073117-48146122	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv874000	chr2:48078838-48291582	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48049200-48096000	Weak transcription	Gastric	stomach
2	chr2:48065400-48098200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:48065400-48114000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:48066000-48097400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:48066000-48100400	Weak transcription	Thymus	Thymus
6	chr2:48066400-48097600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:48067000-48095800	Weak transcription	Fetal Thymus	thymus
8	chr2:48067000-48122000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:48067600-48097600	Weak transcription	Dnd41	blood
10	chr2:48073000-48096000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:48073600-48100000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:48075800-48095800	Weak transcription	Fetal Intestine Large	intestine
13	chr2:48083800-48096200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:48084400-48108000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:48087600-48096000	Weak transcription	Placenta	Placenta
16	chr2:48088600-48095800	Weak transcription	Esophagus	oesophagus
17	chr2:48089200-48096000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:48089800-48095800	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:48089800-48121000	Weak transcription	Aorta	Aorta
20	chr2:48090000-48098200	Weak transcription	Fetal Intestine Small	intestine
21	chr2:48090800-48096000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:48091800-48099000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr2:48092200-48096000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:48092200-48098800	Enhancers	Brain Anterior Caudate	brain
25	chr2:48092400-48100400	Enhancers	Colon Smooth Muscle	Colon
26	chr2:48092600-48095800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:48092800-48095800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:48093000-48096000	Weak transcription	GM12878-XiMat	blood
29	chr2:48093000-48097200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:48093000-48097600	Weak transcription	Primary B cells from cord blood	blood
31	chr2:48093000-48098600	Enhancers	Psoas Muscle	Psoas
32	chr2:48093200-48095800	Weak transcription	HepG2	liver
33	chr2:48093200-48096400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:48093400-48099600	Enhancers	Brain Hippocampus Middle	brain
35	chr2:48093800-48096400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr2:48093800-48098600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:48094000-48095600	Enhancers	Hela-S3	cervix
38	chr2:48094000-48095800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr2:48094000-48096000	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr2:48094200-48097000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:48094200-48097200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr2:48094200-48100400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr2:48094400-48095800	Weak transcription	Primary T cells from cord blood	blood
44	chr2:48094400-48095800	Enhancers	Duodenum Mucosa	Duodenum
45	chr2:48094400-48096000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:48094400-48096200	Enhancers	Primary T cells fromperipheralblood	blood
47	chr2:48094400-48096200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr2:48094400-48096600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:48094400-48096800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr2:48094400-48097200	Enhancers	HUES48 Cell Line	embryonic stem cell

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