Variant report

Variant	rs3808222
Chromosome Location	chr7:116754688-116754689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:116753879..116756324-chr7:116759041..116762542,3	K562	blood:
2	chr7:116751335..116754820-chr7:116754826..116760392,6	K562	blood:
3	chr7:116728842..116731041-chr7:116753919..116755570,2	K562	blood:
4	chr7:116752240..116755049-chr7:116766540..116769189,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000004866	Chromatin interaction
ENSG00000226367	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11762032	1.00[CHB][hapmap]
rs11764134	1.00[CHB][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap]
rs11773591	1.00[CHB][hapmap]
rs12706125	1.00[CHB][hapmap]
rs12706126	1.00[CHB][hapmap]
rs12706134	1.00[CHB][hapmap];1.00[LWK][hapmap]
rs12706135	1.00[CHB][hapmap];0.81[MKK][hapmap]
rs12706137	1.00[CHB][hapmap]
rs12706138	1.00[CHB][hapmap]
rs12706139	1.00[CHB][hapmap]
rs12706140	1.00[CHB][hapmap]
rs12706141	1.00[CHB][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap]
rs12706143	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12706144	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13221657	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13222576	1.00[CHB][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.81[MKK][hapmap]
rs13224314	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13239447	1.00[CHB][hapmap]
rs13308921	1.00[CHB][hapmap]
rs2188693	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808218	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831108	chr7:116749534-116952011	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3808222	ANKRD7	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116725400-116766400	Weak transcription	Brain Germinal Matrix	brain
2	chr7:116737400-116758800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:116738400-116774200	Weak transcription	Ovary	ovary
4	chr7:116738400-116779600	Weak transcription	Esophagus	oesophagus
5	chr7:116738800-116760400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:116738800-116763400	Weak transcription	Hela-S3	cervix
7	chr7:116739400-116758800	Weak transcription	NH-A	brain
8	chr7:116743800-116760200	Weak transcription	Placenta	Placenta
9	chr7:116745600-116763600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:116750600-116758800	Weak transcription	Fetal Lung	lung
11	chr7:116750600-116759000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:116750800-116755400	Weak transcription	Spleen	Spleen
13	chr7:116750800-116758800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:116750800-116758800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:116750800-116764600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr7:116751200-116756000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:116751200-116758400	Weak transcription	HUVEC	blood vessel
18	chr7:116751200-116758600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:116751200-116758800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:116751200-116761400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:116751200-116762600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:116751200-116762600	Weak transcription	NHDF-Ad	bronchial
23	chr7:116751400-116763400	Weak transcription	Colon Smooth Muscle	Colon
24	chr7:116751400-116763600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:116751400-116764600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr7:116751400-116764600	Weak transcription	Lung	lung
27	chr7:116751400-116778600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr7:116751800-116759400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:116751800-116763800	Weak transcription	Fetal Intestine Small	intestine
30	chr7:116751800-116764400	Weak transcription	Fetal Intestine Large	intestine
31	chr7:116752000-116755200	Weak transcription	GM12878-XiMat	blood
32	chr7:116752000-116764600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:116752000-116764600	Weak transcription	Left Ventricle	heart
34	chr7:116752600-116755400	Enhancers	Fetal Muscle Leg	muscle
35	chr7:116752800-116755200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr7:116753400-116755000	Enhancers	HSMMtube	muscle
37	chr7:116753400-116757600	Enhancers	Fetal Brain Male	brain
38	chr7:116753800-116755400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr7:116753800-116757000	Enhancers	Fetal Brain Female	brain
40	chr7:116754200-116755000	Weak transcription	Pancreas	Pancrea
41	chr7:116754200-116758800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:116754200-116758800	Weak transcription	K562	blood
43	chr7:116754200-116763000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:116754200-116764400	Weak transcription	HSMM	muscle
45	chr7:116754200-116764600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:116754200-116764600	Weak transcription	Aorta	Aorta
47	chr7:116754200-116797400	Weak transcription	Fetal Stomach	stomach
48	chr7:116754400-116754800	Weak transcription	Psoas Muscle	Psoas
49	chr7:116754600-116755200	Enhancers	Fetal Muscle Trunk	muscle
50	chr7:116754600-116763400	Weak transcription	Fetal Heart	heart

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