Variant report

Variant	rs10819756
Chromosome Location	chr9:103075761-103075762
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:103062847..103065404-chr9:103075501..103077702,2	MCF-7	breast:
2	chr9:103075126..103077245-chr9:103111933..103114024,2	MCF-7	breast:
3	chr9:103069740..103072303-chr9:103072718..103076064,3	K562	blood:

Variant related genes	Relation type
ENSG00000136891	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10117799	0.82[ASN][1000 genomes]
rs10118701	0.82[ASN][1000 genomes]
rs10123866	0.82[ASN][1000 genomes]
rs10123913	0.82[ASN][1000 genomes]
rs10124893	0.81[ASN][1000 genomes]
rs10125785	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10760724	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10819751	0.81[ASN][1000 genomes]
rs10989049	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10989056	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11789196	0.82[ASN][1000 genomes]
rs1338123	0.81[ASN][1000 genomes]
rs1338124	0.81[ASN][1000 genomes]
rs1338125	0.81[ASN][1000 genomes]
rs1930243	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1961367	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2787368	0.82[ASN][1000 genomes]
rs2787369	0.82[ASN][1000 genomes]
rs2787371	0.81[ASN][1000 genomes]
rs2787372	0.82[ASN][1000 genomes]
rs2787373	0.82[ASN][1000 genomes]
rs2787375	0.82[ASN][1000 genomes]
rs2787377	0.84[ASN][1000 genomes]
rs2787383	0.81[ASN][1000 genomes]
rs2787388	0.81[ASN][1000 genomes]
rs2806692	0.81[ASN][1000 genomes]
rs2806696	0.81[ASN][1000 genomes]
rs2806702	0.84[ASN][1000 genomes]
rs2806703	0.81[ASN][1000 genomes]
rs3813712	0.84[ASN][1000 genomes]
rs3923501	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4128230	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4237194	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4237195	0.82[ASN][1000 genomes]
rs4237196	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4446782	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4742782	0.82[ASN][1000 genomes]
rs4742783	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4743392	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5029342	0.82[ASN][1000 genomes]
rs5029343	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6479009	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6479010	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6479011	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6479014	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7020988	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7021310	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7025891	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7025938	0.82[ASN][1000 genomes]
rs7035619	0.82[ASN][1000 genomes]
rs7036570	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7048601	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7472	0.82[ASN][1000 genomes]
rs7849966	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7854693	0.82[ASN][1000 genomes]
rs7860513	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7864494	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7866850	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7869985	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7871702	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7874900	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7875775	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs914711	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs944710	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs959893	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9775182	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]

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	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	esv1835721	chr9:102991314-103096666	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10819756	INVS	cis	Thyroid	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103044600-103102400	Weak transcription	Stomach Mucosa	stomach
2	chr9:103046400-103104000	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr9:103046600-103092400	Strong transcription	Fetal Thymus	thymus
4	chr9:103048000-103078000	Strong transcription	Primary T cells from cord blood	blood
5	chr9:103048400-103083000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr9:103050600-103086400	Strong transcription	Dnd41	blood
7	chr9:103050800-103080400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr9:103051000-103088800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:103051200-103078000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr9:103055800-103077600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr9:103057600-103112600	Weak transcription	Fetal Brain Male	brain
12	chr9:103058400-103092200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr9:103058800-103084800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr9:103063800-103093400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr9:103063800-103106000	Weak transcription	Esophagus	oesophagus
16	chr9:103064000-103100000	Weak transcription	Colonic Mucosa	Colon
17	chr9:103064200-103093200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr9:103064600-103079400	Weak transcription	HSMMtube	muscle
19	chr9:103064800-103104200	Weak transcription	Right Ventricle	heart
20	chr9:103065000-103080600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr9:103065000-103114200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr9:103065200-103087600	Weak transcription	Brain Anterior Caudate	brain
23	chr9:103065400-103080200	Weak transcription	Brain Substantia Nigra	brain
24	chr9:103065400-103087400	Weak transcription	Psoas Muscle	Psoas
25	chr9:103066200-103080200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr9:103066200-103087800	Weak transcription	Gastric	stomach
27	chr9:103066200-103088400	Weak transcription	Lung	lung
28	chr9:103066200-103100400	Weak transcription	Aorta	Aorta
29	chr9:103066200-103112600	Weak transcription	Pancreas	Pancrea
30	chr9:103066200-103113200	Weak transcription	Spleen	Spleen
31	chr9:103066200-103113800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr9:103066400-103079400	Weak transcription	HUVEC	blood vessel
33	chr9:103066600-103080400	Weak transcription	Colon Smooth Muscle	Colon
34	chr9:103066800-103091600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr9:103067000-103086600	Strong transcription	Primary B cells from cord blood	blood
36	chr9:103067600-103112400	Weak transcription	Small Intestine	intestine
37	chr9:103067800-103080800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr9:103068000-103077400	Weak transcription	Liver	Liver
39	chr9:103068200-103080400	Weak transcription	Brain Angular Gyrus	brain
40	chr9:103068200-103085200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr9:103068200-103094000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr9:103068600-103077400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr9:103069200-103095400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr9:103069400-103094800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr9:103069800-103078400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr9:103069800-103078800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:103069800-103092000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr9:103070000-103093800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr9:103070400-103078800	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr9:103070600-103086800	Strong transcription	HepG2	liver

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