Variant report

Variant	rs11763269
Chromosome Location	chr7:66459145-66459146
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr7:66458739-66459218	GM12878	blood:	n/a	n/a
2	CBX3	chr7:66459133-66460941	K562	blood:	n/a	n/a
3	HEY1	chr7:66459000-66460852	K562	blood:	n/a	n/a
4	POLR2A	chr7:66459008-66460895	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:66459102-66459414	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr7:66459010-66460855	GM12878	blood:	n/a	n/a
7	RUNX3	chr7:66458731-66459185	GM12878	blood:	n/a	n/a
8	MEF2A	chr7:66458819-66459155	GM12878	blood:	n/a	chr7:66458945-66458966 chr7:66458945-66458966 chr7:66459056-66459067

No.	Distal block	Cell Line	Cell type
1	chr7:66385188..66388317-chr7:66459133..66463010,3	K562	blood:
2	chr7:66384595..66388317-chr7:66459135..66463010,5	K562	blood:
3	chr7:66458248..66462145-chr7:72299146..72302148,5	K562	blood:
4	chr7:66458802..66462145-chr7:72298376..72302148,5	K562	blood:
5	chr7:66309584..66311542-chr7:66458819..66461691,3	K562	blood:

Variant related genes	Relation type
TYW1	TF binding region
ENSG00000106609	Chromatin interaction
ENSG00000225648	Chromatin interaction
ENSG00000254184	Chromatin interaction
ENSG00000230583	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13238478	0.83[LWK][hapmap]
rs34785430	0.83[LWK][hapmap]
rs35043782	0.83[LWK][hapmap]
rs35111158	0.83[LWK][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	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1032575	chr7:66432853-66576034	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11763269	TYW1	cis	cerebellum	SCAN
rs11763269	AUTS2	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66420600-66459200	Weak transcription	Psoas Muscle	Psoas
2	chr7:66446600-66459400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:66449400-66459200	Weak transcription	HepG2	liver
4	chr7:66449600-66459400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:66451600-66459200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:66451600-66459400	Weak transcription	Esophagus	oesophagus
7	chr7:66451800-66459200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:66451800-66459200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:66452000-66459200	Weak transcription	Aorta	Aorta
10	chr7:66452000-66459800	Weak transcription	Small Intestine	intestine
11	chr7:66452800-66459200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:66453600-66459600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:66454200-66459200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:66454200-66459400	Weak transcription	Gastric	stomach
15	chr7:66454200-66459600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:66454200-66460200	Weak transcription	Spleen	Spleen
17	chr7:66454400-66459400	Weak transcription	Lung	lung
18	chr7:66454400-66459600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr7:66455400-66459800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:66456800-66459200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr7:66457000-66459600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr7:66457400-66459200	Weak transcription	Primary B cells from cord blood	blood
23	chr7:66457400-66459200	Weak transcription	Fetal Brain Female	brain
24	chr7:66457400-66459400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:66457400-66459600	Weak transcription	Ovary	ovary
26	chr7:66457400-66459800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:66457600-66459200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:66457600-66459400	Weak transcription	Stomach Mucosa	stomach
29	chr7:66457800-66459200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:66458000-66459200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr7:66458200-66459200	Enhancers	Colonic Mucosa	Colon
32	chr7:66458400-66459200	Weak transcription	Brain Germinal Matrix	brain
33	chr7:66458400-66459200	Enhancers	Brain Hippocampus Middle	brain
34	chr7:66458400-66459200	Enhancers	Brain Substantia Nigra	brain
35	chr7:66458400-66459200	Weak transcription	Pancreas	Pancrea
36	chr7:66458400-66459400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr7:66458600-66459200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:66458600-66459200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:66458600-66459200	Enhancers	Primary T cells fromperipheralblood	blood
40	chr7:66458600-66459200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr7:66458600-66459200	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr7:66458600-66459200	Weak transcription	Brain Anterior Caudate	brain
43	chr7:66458600-66459200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr7:66458600-66459200	Weak transcription	Fetal Thymus	thymus
45	chr7:66458600-66459400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr7:66458600-66459400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:66458600-66459400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr7:66458600-66459400	Enhancers	Brain Cingulate Gyrus	brain
49	chr7:66458600-66459600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:66458600-66459600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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