Variant report

Variant	rs3808055
Chromosome Location	chr7:127705174-127705175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127703319..127705715-chr7:127706907..127711079,5	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs124756	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1345509	0.83[JPT][hapmap]
rs178734	0.82[EUR][1000 genomes]
rs2241291	0.80[CHB][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap];0.88[JPT][hapmap]
rs225241	0.82[EUR][1000 genomes]
rs322781	0.86[ASN][1000 genomes]
rs322813	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs322816	0.94[ASN][1000 genomes]
rs322817	0.92[ASN][1000 genomes]
rs322819	0.95[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs322820	0.90[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs322821	0.90[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs322822	0.95[ASN][1000 genomes]
rs322823	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs322824	0.97[ASN][1000 genomes]
rs322825	0.95[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs322826	0.93[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322827	0.85[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap]
rs322828	0.82[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap]
rs322829	0.98[ASN][1000 genomes]
rs322830	0.98[ASN][1000 genomes]
rs322832	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322833	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322834	0.81[EUR][1000 genomes]
rs322837	0.98[ASN][1000 genomes]
rs322840	0.95[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3757753	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757754	0.99[ASN][1000 genomes]
rs3757755	0.82[EUR][1000 genomes]
rs3757759	0.93[ASN][1000 genomes]
rs3757760	0.80[CHB][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap];0.88[JPT][hapmap]
rs3757763	0.80[CHB][hapmap];0.80[CHD][hapmap];0.80[GIH][hapmap];0.88[JPT][hapmap]
rs3779522	0.99[ASN][1000 genomes]
rs3779523	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3779526	0.83[JPT][hapmap]
rs3808056	0.80[CHB][hapmap];0.87[GIH][hapmap];0.88[JPT][hapmap]
rs3808077	0.81[CHB][hapmap]
rs3808088	0.80[CHD][hapmap];0.83[JPT][hapmap]
rs3823995	0.83[JPT][hapmap]
rs6969233	0.93[ASN][1000 genomes]
rs6973092	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3808055	ARF5	cis	cerebellum	SCAN
rs3808055	TMEM209	cis	cerebellum	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127669400-127726600	Weak transcription	Hela-S3	cervix
2	chr7:127669600-127718200	Weak transcription	A549	lung
3	chr7:127673200-127712000	Weak transcription	Esophagus	oesophagus
4	chr7:127673800-127715400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:127681000-127716200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:127681200-127718200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:127681600-127714600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:127683000-127708800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:127685000-127710400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:127689400-127717000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:127692800-127714400	Weak transcription	Right Ventricle	heart
12	chr7:127692800-127724200	Weak transcription	Right Atrium	heart
13	chr7:127693200-127718400	Weak transcription	HMEC	breast
14	chr7:127693400-127706400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr7:127693400-127708800	Strong transcription	Fetal Intestine Small	intestine
16	chr7:127693400-127711600	Weak transcription	Adipose Nuclei	Adipose
17	chr7:127693400-127714200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:127693400-127716600	Weak transcription	Colonic Mucosa	Colon
19	chr7:127693400-127717200	Weak transcription	Small Intestine	intestine
20	chr7:127693600-127710200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:127694200-127707000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr7:127694400-127706400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:127694400-127707400	Weak transcription	Placenta	Placenta
24	chr7:127694400-127713600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:127694400-127716800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr7:127694600-127707200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:127694600-127707400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:127694800-127717200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:127695200-127718000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:127696400-127706800	Weak transcription	Aorta	Aorta
31	chr7:127696800-127706600	Weak transcription	Fetal Intestine Large	intestine
32	chr7:127697200-127714800	Weak transcription	HUVEC	blood vessel
33	chr7:127697600-127707000	Strong transcription	GM12878-XiMat	blood
34	chr7:127698200-127713600	Weak transcription	Osteobl	bone
35	chr7:127698400-127714600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:127698800-127705400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:127698800-127707600	Weak transcription	HSMMtube	muscle
38	chr7:127699800-127714600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr7:127700000-127712000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:127700400-127711600	Weak transcription	Dnd41	blood
41	chr7:127700400-127714600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:127700400-127714600	Weak transcription	Left Ventricle	heart
43	chr7:127700400-127714800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr7:127700400-127715400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:127700400-127715400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr7:127700600-127706800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:127700800-127711800	Weak transcription	Thymus	Thymus
48	chr7:127701000-127707400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:127701000-127707400	Strong transcription	NHEK	skin
50	chr7:127701000-127712800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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