Variant report

Variant	rs7593340
Chromosome Location	chr2:97288586-97288587
allele	A/G
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	chr2:97288384-97290007	A549	lung:	n/a	n/a
2	POLR2A	chr2:97288551-97288730	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:97288352-97288726	K562	blood:	n/a	n/a
4	POLR2A	chr2:97288367-97288626	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:97288379-97290127	K562	blood:	n/a	n/a
6	POLR2A	chr2:97288360-97288686	K562	blood:	n/a	n/a
7	POLR2A	chr2:97288454-97288631	Hela-S3	cervix:	n/a	n/a
8	USF2	chr2:97288542-97288707	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:97288375-97288632	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:97288415-97288617	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr2:97288439-97288637	HepG2	liver:	n/a	n/a
12	POLR2A	chr2:97288405-97288724	HepG2	liver:	n/a	n/a
13	POLR2A	chr2:97288289-97288809	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:96874364..96876092-chr2:97288448..97290942,2	K562	blood:
2	chr2:97288040..97290630-chr2:97292751..97295463,2	MCF-7	breast:

Variant related genes	Relation type
KANSL3	TF binding region
ENSG00000084090	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1047634	1.00[EUR][1000 genomes]
rs11886360	1.00[EUR][1000 genomes]
rs11892821	1.00[EUR][1000 genomes]
rs2314649	1.00[EUR][1000 genomes]
rs34013660	1.00[EUR][1000 genomes]
rs6576977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6576985	1.00[EUR][1000 genomes]
rs6576988	1.00[EUR][1000 genomes]
rs6707008	1.00[EUR][1000 genomes]
rs6713046	1.00[EUR][1000 genomes]
rs6746421	1.00[EUR][1000 genomes]
rs6748214	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6748234	1.00[EUR][1000 genomes]
rs7569178	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7570831	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7580104	1.00[EUR][1000 genomes]
rs7587149	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97258200-97302800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:97261200-97301600	Strong transcription	Fetal Thymus	thymus
3	chr2:97266200-97291000	Strong transcription	Fetal Stomach	stomach
4	chr2:97273200-97291800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:97275000-97298600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:97277200-97291800	Weak transcription	Stomach Mucosa	stomach
7	chr2:97278600-97293200	Weak transcription	Small Intestine	intestine
8	chr2:97279800-97293200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:97281600-97291800	Strong transcription	Fetal Muscle Leg	muscle
10	chr2:97283000-97293800	Weak transcription	Fetal Heart	heart
11	chr2:97283000-97296400	Weak transcription	Psoas Muscle	Psoas
12	chr2:97283200-97293400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:97283400-97294600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:97283600-97293800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:97285000-97288800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:97285200-97296600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:97285400-97288600	Weak transcription	Brain Angular Gyrus	brain
18	chr2:97285400-97290800	Weak transcription	HSMMtube	muscle
19	chr2:97285400-97291800	Weak transcription	HMEC	breast
20	chr2:97285400-97292000	Weak transcription	Aorta	Aorta
21	chr2:97285400-97293400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:97285400-97293600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:97285400-97293600	Weak transcription	Ovary	ovary
24	chr2:97285400-97294000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:97285400-97296800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:97285400-97302400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:97285600-97288600	Weak transcription	Primary B cells from cord blood	blood
28	chr2:97285600-97288600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:97285600-97288600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:97285600-97288600	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:97285600-97288800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:97285600-97289600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:97285600-97290800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:97285600-97291000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:97285600-97291000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:97285600-97291200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:97285600-97291600	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:97285600-97293200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:97285600-97293200	Weak transcription	Lung	lung
40	chr2:97285600-97293200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:97285600-97293400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:97285600-97293400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:97285600-97293600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:97285600-97293800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:97285600-97293800	Weak transcription	Esophagus	oesophagus
46	chr2:97285600-97293800	Weak transcription	Pancreas	Pancrea
47	chr2:97285600-97295400	Weak transcription	NHLF	lung
48	chr2:97285600-97296400	Weak transcription	Gastric	stomach
49	chr2:97285600-97296800	Weak transcription	Colonic Mucosa	Colon
50	chr2:97285800-97288800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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