Variant report

Variant	rs763046
Chromosome Location	chr6:36713263-36713264
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36706267..36708533-chr6:36712946..36714916,2	K562	blood:
2	chr6:36563235..36565666-chr6:36712198..36714107,2	K562	blood:
3	chr6:36682976..36685028-chr6:36712488..36714251,2	MCF-7	breast:
4	chr6:36710588..36713306-chr6:36722738..36724865,2	MCF-7	breast:
5	chr6:36706791..36710785-chr6:36712838..36716064,4	MCF-7	breast:
6	chr6:36646077..36648615-chr6:36711852..36713395,2	K562	blood:
7	chr6:36708918..36710565-chr6:36712727..36715586,2	K562	blood:
8	chr6:36635018..36637044-chr6:36710933..36713268,2	K562	blood:
9	chr6:36705103..36707775-chr6:36711430..36713266,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124762	Chromatin interaction
ENSG00000255587	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1010790	0.80[AMR][1000 genomes]
rs1010791	0.80[AMR][1000 genomes]
rs236428	0.81[CHB][hapmap]
rs236429	0.81[CHB][hapmap]
rs236430	0.81[CHB][hapmap]
rs236432	0.81[CHB][hapmap]
rs236433	0.81[CHB][hapmap]
rs236441	0.81[CHB][hapmap]
rs7772191	0.84[AMR][1000 genomes]
rs9380597	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031191	chr6:36588974-36718015	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv538201	chr6:36588974-36718015	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1033261	chr6:36687424-36837315	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv885809	chr6:36687518-36719079	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv885810	chr6:36695223-36714491	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv885811	chr6:36695223-36719079	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv524053	chr6:36695223-36747406	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv520755	chr6:36702284-36713720	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv885813	chr6:36702843-36713720	Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv525168	chr6:36704787-36713720	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv885814	chr6:36704807-36722842	Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
14	nsv602951	chr6:36706157-36719079	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs763046	ITPR3	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36703400-36718000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:36703800-36718000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:36704000-36718000	Weak transcription	Right Atrium	heart
4	chr6:36704000-36720400	Weak transcription	Right Ventricle	heart
5	chr6:36708400-36720800	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr6:36709200-36714800	Enhancers	Esophagus	oesophagus
7	chr6:36709200-36727000	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr6:36710200-36715600	Weak transcription	Fetal Brain Female	brain
9	chr6:36711000-36713800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:36711800-36713400	Enhancers	Spleen	Spleen
11	chr6:36711800-36716200	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:36711800-36719800	Weak transcription	Gastric	stomach
13	chr6:36712400-36716000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:36712400-36718400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr6:36712600-36713400	Enhancers	Colonic Mucosa	Colon
16	chr6:36712600-36713600	Enhancers	Stomach Mucosa	stomach
17	chr6:36712600-36714200	Strong transcription	Fetal Stomach	stomach
18	chr6:36712600-36714600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:36712600-36719000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:36712800-36713800	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr6:36713000-36713800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr6:36713200-36713400	Weak transcription	Primary B cells from cord blood	blood
23	chr6:36713200-36713400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:36713200-36713400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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