Variant report

Variant	rs67998492
Chromosome Location	chr2:11496840-11496841
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11493192..11494740-chr2:11496741..11499584,2	K562	blood:
2	chr2:11488042..11489928-chr2:11495896..11497893,2	K562	blood:
3	chr2:11483743..11487223-chr2:11496291..11499577,4	K562	blood:
4	chr2:11492972..11495915-chr2:11496036..11497554,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs55657626	0.96[EUR][1000 genomes]
rs55750834	0.96[EUR][1000 genomes]
rs55841255	0.96[EUR][1000 genomes]
rs66554543	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs66668184	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66705656	1.00[EUR][1000 genomes]
rs67791660	1.00[EUR][1000 genomes]
rs68106030	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68193683	0.98[EUR][1000 genomes]
rs72771303	0.94[EUR][1000 genomes]
rs72771305	0.93[EUR][1000 genomes]
rs72774840	0.96[EUR][1000 genomes]
rs72774847	1.00[EUR][1000 genomes]
rs72789547	0.96[EUR][1000 genomes]
rs73177213	0.85[AFR][1000 genomes]
rs73177217	0.97[AFR][1000 genomes]
rs73177223	0.97[AFR][1000 genomes]
rs7422435	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 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	chr2:11485800-11497400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:11485800-11497400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:11492600-11500600	Enhancers	Fetal Intestine Large	intestine
4	chr2:11493600-11497400	Weak transcription	Liver	Liver
5	chr2:11494600-11498200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:11494600-11498200	Enhancers	Spleen	Spleen
7	chr2:11494600-11498400	Enhancers	Fetal Intestine Small	intestine
8	chr2:11494800-11498800	Enhancers	Fetal Muscle Leg	muscle
9	chr2:11494800-11498800	Enhancers	Placenta	Placenta
10	chr2:11495200-11497400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:11495400-11498000	Enhancers	Fetal Muscle Trunk	muscle
12	chr2:11495400-11498200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:11495400-11499600	Weak transcription	Stomach Mucosa	stomach
14	chr2:11495600-11498000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:11495600-11498200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:11495600-11500000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:11495800-11498200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:11496200-11497200	Weak transcription	Fetal Heart	heart
19	chr2:11496200-11497600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:11496200-11497600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:11496400-11497000	Genic enhancers	HepG2	liver
22	chr2:11496400-11497600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:11496600-11498000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr2:11496600-11498200	Enhancers	Fetal Lung	lung
25	chr2:11496600-11498800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:11496800-11497000	Enhancers	Esophagus	oesophagus
27	chr2:11496800-11497000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr2:11496800-11497000	Enhancers	Stomach Smooth Muscle	stomach
29	chr2:11496800-11497200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:11496800-11498000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:11496800-11498000	Enhancers	Left Ventricle	heart
32	chr2:11496800-11498200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:11496800-11498200	Enhancers	Lung	lung
34	chr2:11496800-11498200	Enhancers	Psoas Muscle	Psoas
35	chr2:11496800-11498400	Enhancers	Adipose Nuclei	Adipose

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