Variant report

Variant	rs72937692
Chromosome Location	chr2:97007687-97007688
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97006763..97009572-chr2:97173633..97175254,2	MCF-7	breast:
2	chr2:97005124..97008505-chr2:97011571..97014972,4	K562	blood:
3	chr2:97007216..97008784-chr2:97020254..97022650,2	MCF-7	breast:
4	chr2:97005219..97008922-chr2:97010120..97013534,4	MCF-7	breast:
5	chr2:96999807..97004328-chr2:97004913..97010440,12	MCF-7	breast:
6	chr2:96872979..96875885-chr2:97007555..97009206,2	K562	blood:
7	chr2:96873666..96875672-chr2:97006603..97009131,2	K562	blood:
8	chr2:97006581..97009347-chr2:97011114..97012829,3	MCF-7	breast:
9	chr2:96964603..96966846-chr2:97005907..97008831,2	K562	blood:
10	chr2:97005051..97007971-chr2:97016951..97018906,2	K562	blood:
11	chr2:96999907..97005565-chr2:97005819..97011243,10	MCF-7	breast:
12	chr2:97000363..97004034-chr2:97006939..97016132,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000204685	Chromatin interaction
ENSG00000084090	Chromatin interaction
ENSG00000121152	Chromatin interaction
ENSG00000163121	Chromatin interaction

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

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

rs_ID	r²[population]
rs57966158	0.86[AFR][1000 genomes]
rs6721923	0.86[AFR][1000 genomes]
rs72937668	0.86[AFR][1000 genomes]
rs72937669	0.86[AFR][1000 genomes]
rs72937670	0.86[AFR][1000 genomes]
rs72937680	0.86[AFR][1000 genomes]
rs7609551	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking 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 miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv834305	chr2:96848898-97019476	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
9	nsv508155	chr2:96934695-97138302	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97001800-97016400	Weak transcription	Spleen	Spleen
2	chr2:97002000-97036000	Weak transcription	Gastric	stomach
3	chr2:97002200-97008000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:97002200-97018800	Weak transcription	Right Atrium	heart
5	chr2:97002200-97037600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:97002400-97012600	Weak transcription	Placenta	Placenta
7	chr2:97002400-97016200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:97002400-97018800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:97002600-97009800	Weak transcription	Fetal Kidney	kidney
10	chr2:97002600-97011800	Weak transcription	Small Intestine	intestine
11	chr2:97002600-97017400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:97002600-97031600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:97002800-97007800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:97002800-97009800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:97002800-97010400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:97002800-97015400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:97002800-97018800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:97002800-97040000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:97003000-97018400	Weak transcription	Fetal Heart	heart
20	chr2:97003200-97007800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:97003200-97008000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:97003200-97031400	Weak transcription	Primary B cells from cord blood	blood
23	chr2:97003600-97008000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr2:97004000-97040400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:97004200-97040400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:97005000-97018800	Strong transcription	Fetal Thymus	thymus
27	chr2:97005400-97008400	Enhancers	Osteobl	bone
28	chr2:97005800-97007800	Flanking Active TSS	GM12878-XiMat	blood
29	chr2:97005800-97008400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:97005800-97008400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:97006000-97008400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:97006000-97008400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:97006200-97008400	Enhancers	NHDF-Ad	bronchial
34	chr2:97006200-97011400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr2:97006200-97012000	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr2:97006200-97041000	Strong transcription	Dnd41	blood
37	chr2:97006400-97008000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:97006400-97008400	Enhancers	NH-A	brain
39	chr2:97006600-97008200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:97006600-97040200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:97006600-97040400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:97006800-97008200	Enhancers	NHLF	lung
43	chr2:97006800-97008400	Genic enhancers	K562	blood
44	chr2:97006800-97011000	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr2:97006800-97018000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:97006800-97040400	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr2:97006800-97040600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:97006800-97040800	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:97007000-97008400	Genic enhancers	HepG2	liver
50	chr2:97007000-97011000	Enhancers	Primary T helper cells PMA-I stimulated	--

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