Variant report

Variant	rs2164807
Chromosome Location	chr2:85962551-85962552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85960025..85963728-chr2:85966554..85970726,5	MCF-7	breast:
2	chr2:85962517..85964339-chr2:85996899..85999764,2	MCF-7	breast:
3	chr2:85961835..85963960-chr2:85967873..85971227,3	MCF-7	breast:
4	chr2:85955595..85958581-chr2:85959613..85963230,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13395555	0.82[JPT][hapmap]
rs17617943	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34844676	0.80[EUR][1000 genomes]
rs35635795	0.87[ASN][1000 genomes]
rs35717723	0.80[ASN][1000 genomes]
rs62163131	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][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	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv527770	chr2:85949396-85962551	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2164807	GGCX	cis	parietal	SCAN
rs2164807	ATOH8	cis	multi-tissue	Pritchard
rs2164807	CAPG	cis	parietal	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85941200-85967400	Weak transcription	Esophagus	oesophagus
2	chr2:85955200-85966400	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr2:85956600-85963000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:85956600-85964000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:85956800-85963000	Weak transcription	Adipose Nuclei	Adipose
6	chr2:85956800-85963000	Weak transcription	NHLF	lung
7	chr2:85958600-85965600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:85959200-85968000	Weak transcription	Fetal Heart	heart
9	chr2:85959400-85963200	Enhancers	Brain Anterior Caudate	brain
10	chr2:85959400-85964400	Enhancers	Psoas Muscle	Psoas
11	chr2:85959600-85963200	Enhancers	Brain Substantia Nigra	brain
12	chr2:85959600-85963400	Enhancers	Brain Hippocampus Middle	brain
13	chr2:85960400-85966400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:85960600-85962800	Enhancers	Right Atrium	heart
15	chr2:85960600-85963000	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr2:85960600-85963200	Enhancers	HSMM	muscle
17	chr2:85960800-85964000	Weak transcription	Hela-S3	cervix
18	chr2:85960800-85965600	Enhancers	Colon Smooth Muscle	Colon
19	chr2:85960800-85968200	Weak transcription	Right Ventricle	heart
20	chr2:85961000-85964000	Enhancers	HUVEC	blood vessel
21	chr2:85961000-85966200	Enhancers	NHDF-Ad	bronchial
22	chr2:85961400-85963800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:85961400-85963800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:85961400-85963800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:85961400-85967200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:85961600-85963200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:85961600-85964800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:85961600-85966000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr2:85961600-85968000	Weak transcription	Left Ventricle	heart
30	chr2:85961800-85962600	Enhancers	Rectal Smooth Muscle	rectum
31	chr2:85961800-85963000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:85961800-85964800	Weak transcription	HSMMtube	muscle
33	chr2:85961800-85965200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:85962000-85965800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:85962200-85962600	Enhancers	NH-A	brain
36	chr2:85962200-85962800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:85962200-85962800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:85962200-85963200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:85962200-85964400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:85962200-85965400	Enhancers	Osteobl	bone
41	chr2:85962200-85966200	Enhancers	A549	lung
42	chr2:85962400-85962600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:85962400-85963000	Enhancers	Brain Angular Gyrus	brain
44	chr2:85962400-85963000	Enhancers	Stomach Mucosa	stomach
45	chr2:85962400-85963200	Enhancers	Fetal Kidney	kidney
46	chr2:85962400-85963800	Weak transcription	Lung	lung
47	chr2:85962400-85966600	Enhancers	Fetal Stomach	stomach
48	chr2:85962400-85968600	Enhancers	Fetal Lung	lung

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