Variant report

Variant	rs7788320
Chromosome Location	chr7:116660803-116660804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:116593241..116595466-chr7:116660192..116661837,2	K562	blood:
2	chr7:116591200..116595164-chr7:116659811..116663168,5	K562	blood:
3	chr7:116592302..116594663-chr7:116658883..116661789,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214188	Chromatin interaction
ENSG00000227199	Chromatin interaction
ENSG00000004866	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10260368	0.83[ASW][hapmap];0.81[LWK][hapmap]
rs11771917	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12539753	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12669881	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12672783	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2428290	0.83[ASW][hapmap];0.85[LWK][hapmap];0.87[MKK][hapmap]
rs35057858	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3864652	0.91[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs4236605	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4489259	0.83[ASW][hapmap]
rs55840193	0.89[ASN][1000 genomes]
rs59908721	0.82[ASN][1000 genomes]
rs60715492	0.80[ASN][1000 genomes]
rs7785492	0.81[ASW][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs7800379	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[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	nsv527321	chr7:116635048-116660803	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7788320	ANKRD7	cis	cerebellum	SCAN

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116655600-116663000	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr7:116655800-116662800	Weak transcription	Primary T cells from cord blood	blood
3	chr7:116657400-116663000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:116658400-116662800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:116659600-116661000	Flanking Active TSS	K562	blood
6	chr7:116659600-116663000	Active TSS	Brain Anterior Caudate	brain
7	chr7:116659600-116663400	Active TSS	Brain Cingulate Gyrus	brain
8	chr7:116659800-116661000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:116659800-116661000	Active TSS	A549	lung
10	chr7:116659800-116661000	Flanking Active TSS	HMEC	breast
11	chr7:116659800-116661400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:116659800-116661400	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr7:116659800-116661400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr7:116659800-116662800	Active TSS	Fetal Brain Male	brain
15	chr7:116660000-116661000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr7:116660000-116661000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr7:116660000-116661000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:116660000-116661000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:116660000-116661000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:116660000-116661000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr7:116660000-116661000	Flanking Active TSS	HUVEC	blood vessel
22	chr7:116660000-116661000	Flanking Active TSS	NHDF-Ad	bronchial
23	chr7:116660000-116661200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:116660000-116661200	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr7:116660000-116661400	Active TSS	Fetal Kidney	kidney
26	chr7:116660000-116661800	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr7:116660000-116662000	Active TSS	Fetal Stomach	stomach
28	chr7:116660000-116663600	Active TSS	Aorta	Aorta
29	chr7:116660000-116663600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:116660000-116663800	Active TSS	Brain Hippocampus Middle	brain
31	chr7:116660000-116664400	Active TSS	Fetal Brain Female	brain
32	chr7:116660200-116661000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr7:116660200-116661000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:116660200-116661000	Enhancers	H9 Cell Line	embryonic stem cell
35	chr7:116660200-116661000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:116660200-116661000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr7:116660200-116661000	Active TSS	Colon Smooth Muscle	Colon
38	chr7:116660200-116661000	Active TSS	Fetal Lung	lung
39	chr7:116660200-116661000	Enhancers	Pancreas	Pancrea
40	chr7:116660200-116661600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:116660200-116662200	Enhancers	Liver	Liver
42	chr7:116660200-116662400	Active TSS	Fetal Muscle Leg	muscle
43	chr7:116660200-116662600	Active TSS	Brain Germinal Matrix	brain
44	chr7:116660200-116663000	Active TSS	HSMMtube	muscle
45	chr7:116660400-116661000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:116660400-116661000	Active TSS	Right Atrium	heart
47	chr7:116660400-116661000	Flanking Active TSS	NHLF	lung
48	chr7:116660400-116661200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:116660400-116662200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:116660400-116662400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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