Variant report

Variant	rs60926197
Chromosome Location	chr2:101024205-101024206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:101022665..101026054-chr2:101026732..101029227,3	K562	blood:
2	chr2:101018004..101019517-chr2:101023470..101025341,2	K562	blood:
3	chr2:101016960..101020223-chr2:101021855..101026333,5	K562	blood:
4	chr2:101023081..101025478-chr2:101042210..101044979,2	MCF-7	breast:
5	chr2:101018059..101019912-chr2:101021357..101024313,2	MCF-7	breast:
6	chr2:101022190..101024904-chr2:101032493..101034257,2	K562	blood:

Variant related genes	Relation type
ENSG00000115526	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11898693	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56716378	1.00[EUR][1000 genomes]
rs57214256	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57227647	1.00[EUR][1000 genomes]
rs57305094	0.92[AFR][1000 genomes]
rs58334779	0.81[AFR][1000 genomes]
rs59148684	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59956756	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60621957	1.00[EUR][1000 genomes]
rs6708846	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7566156	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7598340	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7608701	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101005600-101032800	Weak transcription	HUVEC	blood vessel
2	chr2:101005800-101033000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:101006600-101031600	Strong transcription	Fetal Stomach	stomach
4	chr2:101007000-101025000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:101007000-101027200	Strong transcription	Stomach Smooth Muscle	stomach
6	chr2:101007200-101032000	Weak transcription	NHDF-Ad	bronchial
7	chr2:101007600-101030600	Weak transcription	NH-A	brain
8	chr2:101008000-101033000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr2:101008400-101025200	Weak transcription	Fetal Brain Male	brain
10	chr2:101009400-101026400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:101010200-101032800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:101013200-101030400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:101013200-101033000	Weak transcription	Fetal Intestine Large	intestine
14	chr2:101014400-101033200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:101014800-101032400	Weak transcription	Hela-S3	cervix
16	chr2:101015600-101033000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:101015800-101024400	Strong transcription	Fetal Brain Female	brain
18	chr2:101015800-101024400	Strong transcription	Fetal Muscle Leg	muscle
19	chr2:101016400-101028000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr2:101016400-101032600	Weak transcription	HSMM	muscle
21	chr2:101016800-101024800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:101017000-101032800	Weak transcription	Osteobl	bone
23	chr2:101017200-101024800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:101017400-101026600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:101017400-101026600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:101017600-101024400	Strong transcription	Dnd41	blood
27	chr2:101017600-101027000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:101018400-101033000	Weak transcription	Primary B cells from cord blood	blood
29	chr2:101019000-101032800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:101020200-101024400	Strong transcription	Spleen	Spleen
31	chr2:101020400-101026600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:101021000-101025200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:101021000-101033200	Weak transcription	Colonic Mucosa	Colon
34	chr2:101021400-101024400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:101021400-101025000	Strong transcription	Pancreas	Pancrea
36	chr2:101021600-101024400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:101021800-101028200	Weak transcription	K562	blood
38	chr2:101022200-101024400	Strong transcription	A549	lung
39	chr2:101022200-101033000	Weak transcription	HSMMtube	muscle
40	chr2:101022400-101026600	Weak transcription	Esophagus	oesophagus
41	chr2:101022600-101032200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr2:101022800-101026000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:101022800-101027000	Enhancers	Right Atrium	heart
44	chr2:101022800-101030200	Weak transcription	Thymus	Thymus
45	chr2:101022800-101030400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:101022800-101030600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:101022800-101032200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr2:101022800-101032400	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:101022800-101033000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:101022800-101033000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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