Variant report

Variant	rs7694064
Chromosome Location	chr4:149083218-149083219
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11099681	0.83[CEU][hapmap]
rs2272089	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3843410	0.86[CEU][hapmap];0.85[CHB][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3843411	0.80[CHB][hapmap]
rs3857079	0.80[CHB][hapmap]
rs4835491	0.80[CHB][hapmap];0.82[AMR][1000 genomes]
rs4835493	0.80[CHB][hapmap]
rs6844155	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6846591	0.84[CHB][hapmap]
rs7694200	1.00[ASW][hapmap];0.95[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7694706	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[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	nsv1032794	chr4:149046598-149135489	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537295	chr4:149046598-149135489	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7694064	MMAA	cis	cerebellum	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149018000-149085800	Weak transcription	Stomach Mucosa	stomach
2	chr4:149041400-149092000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr4:149045600-149104800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:149046400-149085800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:149046600-149087400	Weak transcription	Aorta	Aorta
6	chr4:149047400-149083800	Weak transcription	Small Intestine	intestine
7	chr4:149055000-149087400	Weak transcription	Psoas Muscle	Psoas
8	chr4:149063000-149087400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:149063200-149085600	Weak transcription	Fetal Intestine Small	intestine
10	chr4:149067600-149087400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr4:149068000-149085800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:149068000-149085800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:149068000-149097400	Weak transcription	Spleen	Spleen
14	chr4:149068200-149087400	Weak transcription	Esophagus	oesophagus
15	chr4:149069200-149087400	Weak transcription	Adipose Nuclei	Adipose
16	chr4:149073200-149085800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:149074800-149085800	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:149075800-149084800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr4:149075800-149085800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr4:149076000-149085800	Weak transcription	Ovary	ovary
21	chr4:149076000-149088200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr4:149076000-149094600	Weak transcription	Fetal Stomach	stomach
23	chr4:149081400-149084400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr4:149081600-149083400	Weak transcription	Fetal Kidney	kidney
25	chr4:149081600-149083600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:149081600-149083600	Weak transcription	Pancreas	Pancrea
27	chr4:149081800-149086800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr4:149082000-149085400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr4:149082200-149083600	Weak transcription	Right Atrium	heart
30	chr4:149082600-149083600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr4:149083000-149084000	Enhancers	Lung	lung
32	chr4:149083000-149085400	Enhancers	NHEK	skin
33	chr4:149083000-149085600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:149083000-149086200	Enhancers	Fetal Intestine Large	intestine
35	chr4:149083000-149088600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr4:149083200-149083400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr4:149083200-149083400	Enhancers	Gastric	stomach
38	chr4:149083200-149084000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:149083200-149084000	Enhancers	Left Ventricle	heart
40	chr4:149083200-149084800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:149083200-149084800	Enhancers	Placenta	Placenta
42	chr4:149083200-149084800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr4:149083200-149085200	Enhancers	HMEC	breast
44	chr4:149083200-149087400	Weak transcription	Right Ventricle	heart

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