Variant report

Variant	rs73980205
Chromosome Location	chr2:190400405-190400406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190398000..190401261-chr2:190402799..190406846,4	K562	blood:
2	chr2:190351391..190354367-chr2:190399955..190402907,2	MCF-7	breast:
3	chr2:190394029..190395946-chr2:190399770..190401862,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233996	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1225102	1.00[AMR][1000 genomes]
rs55979997	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56087520	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56207532	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56941749	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57804388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59752566	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60339626	0.85[AFR][1000 genomes]
rs73978670	1.00[AMR][1000 genomes]
rs73978672	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978695	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978696	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978697	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978698	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978699	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978700	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978701	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978702	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980203	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980204	0.81[AFR][1000 genomes];1.00[AMR][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190392400-190406400	Weak transcription	Small Intestine	intestine
2	chr2:190397000-190400600	Enhancers	Fetal Intestine Small	intestine
3	chr2:190398000-190400800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:190398000-190400800	Enhancers	NHDF-Ad	bronchial
5	chr2:190398200-190400600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:190398200-190400800	Enhancers	Adipose Nuclei	Adipose
7	chr2:190398400-190405000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:190398400-190405800	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:190398600-190400600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:190398800-190400600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:190398800-190401000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:190399000-190400600	Enhancers	Osteobl	bone
13	chr2:190399400-190400800	Enhancers	Stomach Mucosa	stomach
14	chr2:190399400-190410200	Weak transcription	Aorta	Aorta
15	chr2:190399800-190405600	Weak transcription	HMEC	breast
16	chr2:190400000-190400600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:190400200-190400600	Weak transcription	Esophagus	oesophagus
18	chr2:190400200-190402800	Weak transcription	HepG2	liver
19	chr2:190400200-190406000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:190400400-190400800	Enhancers	Psoas Muscle	Psoas
21	chr2:190400400-190401000	Enhancers	Gastric	stomach
22	chr2:190400400-190401400	Enhancers	K562	blood
23	chr2:190400400-190402600	Weak transcription	Fetal Intestine Large	intestine
24	chr2:190400400-190406000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:190400400-190407200	Weak transcription	A549	lung
26	chr2:190400400-190410000	Weak transcription	Fetal Lung	lung

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