Variant report

Variant	rs9973945
Chromosome Location	chr2:98774780-98774781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98773639..98775254-chr2:98778952..98780537,2	K562	blood:
2	chr2:98611064..98613202-chr2:98773939..98776742,2	MCF-7	breast:
3	chr2:98705628..98707141-chr2:98772756..98775686,2	MCF-7	breast:
4	chr2:98758686..98760901-chr2:98772249..98774966,2	K562	blood:
5	chr2:98774522..98776569-chr2:98782191..98784432,2	K562	blood:

Variant related genes	Relation type
ENSG00000075568	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11124056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13022257	1.00[EUR][1000 genomes]
rs13406725	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4851830	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4851839	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7370560	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9973921	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv834309	chr2:98643304-98793838	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv527817	chr2:98701043-98791433	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1014962	chr2:98704622-98795737	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv999736	chr2:98706669-98811075	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98764400-98780400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:98770200-98777200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:98770800-98782800	Enhancers	Fetal Muscle Leg	muscle
4	chr2:98771000-98776800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:98771600-98777000	Weak transcription	Fetal Brain Male	brain
6	chr2:98771800-98778800	Weak transcription	Fetal Brain Female	brain
7	chr2:98772000-98775000	Weak transcription	Esophagus	oesophagus
8	chr2:98772000-98776400	Weak transcription	Fetal Thymus	thymus
9	chr2:98772200-98775200	Weak transcription	Right Ventricle	heart
10	chr2:98772200-98790600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:98772600-98776600	Weak transcription	Fetal Lung	lung
12	chr2:98773000-98775000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:98773000-98776800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:98773000-98777000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:98773000-98777000	Weak transcription	HMEC	breast
16	chr2:98773000-98777200	Weak transcription	NHEK	skin
17	chr2:98773400-98775200	Enhancers	Brain Germinal Matrix	brain
18	chr2:98773600-98779200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:98774000-98775000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:98774000-98777000	Enhancers	Fetal Heart	heart
21	chr2:98774000-98780800	Enhancers	Fetal Muscle Trunk	muscle
22	chr2:98774000-98781000	Enhancers	HSMMtube	muscle
23	chr2:98774200-98775600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:98774200-98776000	Enhancers	Left Ventricle	heart
25	chr2:98774200-98776200	Enhancers	Psoas Muscle	Psoas
26	chr2:98774400-98774800	Weak transcription	Right Atrium	heart
27	chr2:98774400-98775400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:98774400-98775600	Enhancers	Aorta	Aorta
29	chr2:98774400-98775600	Enhancers	HSMM	muscle
30	chr2:98774600-98774800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr2:98774600-98774800	Enhancers	Stomach Smooth Muscle	stomach
32	chr2:98774600-98775000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:98774600-98775200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:98774600-98775200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:98774600-98775200	Enhancers	Ovary	ovary

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