Variant report

Variant	rs72948011
Chromosome Location	chr2:96194977-96194978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6717889	0.90[AFR][1000 genomes]
rs6745115	0.85[AFR][1000 genomes]
rs72948013	0.95[AFR][1000 genomes]
rs72948022	1.00[AFR][1000 genomes]
rs72948023	1.00[AFR][1000 genomes]
rs72948026	0.90[AFR][1000 genomes]
rs72948035	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv998014	chr2:95913278-96296630	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3416818	chr2:96072529-96680708	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv834300	chr2:96087967-96337557	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv874660	chr2:96091132-96669134	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv516044	chr2:96150959-96683378	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv1006283	chr2:96159804-96206863	Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1001305	chr2:96161688-96259200	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1008062	chr2:96166970-96259200	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv998984	chr2:96166970-96290275	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv998587	chr2:96170558-96378228	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96192200-96197800	Weak transcription	Fetal Heart	heart
2	chr2:96192400-96196800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:96193000-96196400	Weak transcription	Spleen	Spleen
4	chr2:96193200-96195400	Weak transcription	NHDF-Ad	bronchial
5	chr2:96193200-96195600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:96193200-96195600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:96193200-96195600	Weak transcription	Fetal Lung	lung
8	chr2:96193200-96195800	Weak transcription	Brain Substantia Nigra	brain
9	chr2:96193200-96196000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:96193200-96196600	Weak transcription	Osteobl	bone
11	chr2:96193200-96196800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:96193200-96197000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:96193200-96199000	Weak transcription	HSMMtube	muscle
14	chr2:96193400-96195000	Weak transcription	Fetal Intestine Large	intestine
15	chr2:96193400-96195200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:96193400-96195600	Weak transcription	NHLF	lung
17	chr2:96193400-96196000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:96193400-96196200	Weak transcription	Esophagus	oesophagus
19	chr2:96193400-96198000	Weak transcription	Colonic Mucosa	Colon
20	chr2:96193400-96199000	Weak transcription	Fetal Brain Male	brain
21	chr2:96193600-96195000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:96193600-96195800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:96193600-96196000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:96193600-96196200	Weak transcription	HUVEC	blood vessel
25	chr2:96193600-96196600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr2:96193600-96196800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:96193600-96197000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:96193600-96198200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:96193600-96198800	Weak transcription	Fetal Thymus	thymus
30	chr2:96193800-96195000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:96193800-96195600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:96193800-96195600	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:96193800-96196400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:96193800-96196600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:96193800-96197000	Weak transcription	Primary B cells from peripheral blood	blood
36	chr2:96193800-96197000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr2:96193800-96197400	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:96193800-96199000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr2:96193800-96200400	Weak transcription	Stomach Mucosa	stomach
40	chr2:96194000-96195400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:96194000-96198000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:96194000-96198400	Weak transcription	HMEC	breast
43	chr2:96194200-96195000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:96194200-96195200	Flanking Active TSS	GM12878-XiMat	blood
45	chr2:96194200-96195600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:96194200-96196600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:96194200-96197600	Strong transcription	HSMM	muscle
48	chr2:96194400-96195000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:96194400-96195000	Weak transcription	Liver	Liver
50	chr2:96194400-96195000	Genic enhancers	Brain Germinal Matrix	brain

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