Variant report

Variant	rs707967
Chromosome Location	chr6:35048434-35048435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35027650..35029628-chr6:35048238..35049961,2	K562	blood:
2	chr6:35039756..35041851-chr6:35046944..35049669,2	K562	blood:
3	chr6:35045958..35049879-chr6:35052642..35055370,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1093985	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1568705	0.86[CHB][hapmap];0.85[CHD][hapmap];0.80[GIH][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs2140420	0.88[CEU][hapmap];0.81[MKK][hapmap];0.86[EUR][1000 genomes]
rs2395609	0.81[CEU][hapmap]
rs2494096	0.81[CEU][hapmap]
rs2689097	0.82[EUR][1000 genomes]
rs2762342	0.83[EUR][1000 genomes]
rs2762350	0.88[CEU][hapmap]
rs2820229	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs2820230	0.84[ASN][1000 genomes]
rs3800424	0.81[CHD][hapmap]
rs3800426	0.86[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs6937805	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72537461	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7772251	0.81[CEU][hapmap]
rs820068	0.91[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs820073	0.83[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs820074	0.86[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs820075	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs820076	0.91[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs820078	0.88[CEU][hapmap];0.86[CHB][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs820079	0.88[CEU][hapmap];0.80[CHB][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs820080	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs820081	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs820084	0.84[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs820086	0.84[CEU][hapmap];0.91[CHB][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs820087	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs820088	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs820089	0.94[ASW][hapmap];0.84[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.87[TSI][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs820091	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs820092	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs820094	0.84[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs820096	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs820097	0.84[CEU][hapmap];0.82[CHB][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs820098	0.91[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs865353	0.91[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9348964	0.80[CEU][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	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv869750	chr6:35031548-35085585	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs707967	ANKS1A	cis	cerebellum	SCAN
rs707967	ANKS1A	cis	parietal	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35016200-35055000	Weak transcription	Hela-S3	cervix
2	chr6:35017800-35053000	Weak transcription	Small Intestine	intestine
3	chr6:35018400-35052800	Weak transcription	Fetal Kidney	kidney
4	chr6:35018600-35051000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:35018800-35060600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr6:35020000-35059800	Strong transcription	Fetal Intestine Small	intestine
7	chr6:35020400-35059400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:35021800-35055400	Weak transcription	HSMM	muscle
9	chr6:35024800-35062000	Weak transcription	A549	lung
10	chr6:35025600-35056000	Strong transcription	Liver	Liver
11	chr6:35026600-35059200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr6:35028400-35048800	Weak transcription	Psoas Muscle	Psoas
13	chr6:35028600-35060000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr6:35029000-35050800	Weak transcription	NHLF	lung
15	chr6:35029400-35051400	Weak transcription	Stomach Mucosa	stomach
16	chr6:35029800-35051200	Weak transcription	Osteobl	bone
17	chr6:35032800-35051200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:35033000-35050200	Weak transcription	Dnd41	blood
19	chr6:35036200-35059200	Strong transcription	Primary T cells from cord blood	blood
20	chr6:35036800-35056200	Strong transcription	Fetal Stomach	stomach
21	chr6:35037000-35061800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:35037200-35050000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:35037200-35050000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:35039400-35050400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr6:35039400-35060600	Strong transcription	Fetal Intestine Large	intestine
26	chr6:35039600-35051000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:35039800-35049800	Weak transcription	Primary B cells from cord blood	blood
28	chr6:35039800-35051800	Strong transcription	HSMMtube	muscle
29	chr6:35040000-35049200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr6:35040000-35057000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:35040200-35048600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr6:35040600-35049200	Weak transcription	HUVEC	blood vessel
33	chr6:35040800-35049000	Strong transcription	Lung	lung
34	chr6:35041800-35049000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:35041800-35056800	Weak transcription	Fetal Heart	heart
36	chr6:35042200-35059200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:35042600-35050000	Weak transcription	Right Atrium	heart
38	chr6:35043400-35048600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:35044200-35048600	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr6:35044400-35058800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr6:35044600-35048600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:35044600-35048600	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr6:35044600-35048600	Strong transcription	Stomach Smooth Muscle	stomach
44	chr6:35044600-35048800	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr6:35044600-35057600	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr6:35044600-35058200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:35044800-35048600	Strong transcription	Right Ventricle	heart
48	chr6:35044800-35048800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:35044800-35048800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:35044800-35049000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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