Variant report

Variant	rs7866850
Chromosome Location	chr9:103116601-103116602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr9:103112680-103116753	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr9:103116500-103116650	HPF	lung:	n/a	n/a
3	CTCF	chr9:103116480-103116630	AG10803	skin:	n/a	n/a
4	CTCF	chr9:103116540-103116690	HRPEpiC	eye:	n/a	n/a
5	CTCF	chr9:103116500-103116650	GM12873	blood:	n/a	n/a
6	CTCF	chr9:103116560-103116710	GM12875	blood:	n/a	n/a
7	CTCF	chr9:103116500-103116650	AG04449	skin:	n/a	n/a
8	CTCF	chr9:103116560-103116710	GM12873	blood:	n/a	n/a
9	CTCF	chr9:103116580-103116730	HPAF	blood vessel:	n/a	n/a
10	CTCF	chr9:103116580-103116730	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr9:103116540-103116690	HPF	lung:	n/a	n/a
12	CTCF	chr9:103116520-103116670	SAEC	small airway:	n/a	n/a
13	CBX3	chr9:103116341-103117265	K562	blood:	n/a	n/a
14	CTCF	chr9:103116520-103116670	GM12869	blood:	n/a	n/a
15	CTCF	chr9:103116580-103116730	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr9:103116520-103116670	HEEpiC	esophagus:	n/a	n/a
17	CTCF	chr9:103116520-103116670	WERI-Rb-1	eye:	n/a	n/a
18	POLR2A	chr9:103115891-103116703	MCF10A-Er-Src	breast:	n/a	n/a
19	CTCF	chr9:103116520-103116670	AG04449	skin:	n/a	n/a
20	CTCF	chr9:103116520-103116670	RPTEC	kidney:	n/a	n/a
21	CTCF	chr9:103116540-103116690	GM12865	blood:	n/a	n/a
22	CTCF	chr9:103116537-103116639	GM12878	blood:	n/a	n/a
23	POLR2A	chr9:103116465-103116665	MCF10A-Er-Src	breast:	n/a	n/a
24	CTCF	chr9:103116560-103116710	HCFaa	heart:	n/a	n/a
25	CTCF	chr9:103116500-103116650	HMF	breast:	n/a	n/a
26	CTCF	chr9:103116560-103116710	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr9:103116460-103116610	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr9:103116480-103116630	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr9:103116480-103116630	GM12878	blood:	n/a	n/a
30	EP300	chr9:103116521-103116772	K562	blood:	n/a	n/a
31	CTCF	chr9:103116460-103116610	GM12872	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:103112743..103119519-chr9:103186928..103191502,9	MCF-7	breast:
2	chr9:103112020..103116853-chr9:103187928..103193300,12	MCF-7	breast:
3	chr9:103113279..103116752-chr9:103187119..103190910,6	K562	blood:
4	chr9:103113751..103117482-chr9:103187755..103190910,6	K562	blood:

No data

Variant related genes	Relation type
TEX10	TF binding region
ENSG00000066697	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10117799	0.88[ASN][1000 genomes]
rs10118398	0.98[ASN][1000 genomes]
rs10118701	0.88[ASN][1000 genomes]
rs10120244	0.97[ASN][1000 genomes]
rs10123866	0.88[ASN][1000 genomes]
rs10123913	0.88[ASN][1000 genomes]
rs10124133	0.98[ASN][1000 genomes]
rs10124893	0.87[ASN][1000 genomes]
rs10125785	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10760724	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10819751	0.86[ASN][1000 genomes]
rs10819756	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10819759	0.92[ASN][1000 genomes]
rs10819761	0.95[ASN][1000 genomes]
rs10819762	0.98[ASN][1000 genomes]
rs10819764	0.98[ASN][1000 genomes]
rs10819767	0.98[ASN][1000 genomes]
rs10989049	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10989056	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10989064	0.98[ASN][1000 genomes]
rs10989067	0.98[ASN][1000 genomes]
rs10989070	0.98[ASN][1000 genomes]
rs11789196	0.88[ASN][1000 genomes]
rs12684939	0.92[ASN][1000 genomes]
rs1338123	0.86[ASN][1000 genomes]
rs1338124	0.86[ASN][1000 genomes]
rs1338125	0.86[ASN][1000 genomes]
rs1930243	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1930244	0.91[ASN][1000 genomes]
rs1961367	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2026999	0.98[ASN][1000 genomes]
rs2151131	0.91[ASN][1000 genomes]
rs2210498	0.98[ASN][1000 genomes]
rs2245216	0.85[ASN][1000 genomes]
rs2417084	0.98[ASN][1000 genomes]
rs2417176	0.98[ASN][1000 genomes]
rs2485745	0.83[ASN][1000 genomes]
rs2787368	0.88[ASN][1000 genomes]
rs2787369	0.88[ASN][1000 genomes]
rs2787371	0.87[ASN][1000 genomes]
rs2787372	0.88[ASN][1000 genomes]
rs2787373	0.88[ASN][1000 genomes]
rs2787375	0.88[ASN][1000 genomes]
rs2787376	0.81[ASN][1000 genomes]
rs2787377	0.90[ASN][1000 genomes]
rs2787380	0.85[ASN][1000 genomes]
rs2787381	0.85[ASN][1000 genomes]
rs2787383	0.86[ASN][1000 genomes]
rs2787385	0.85[ASN][1000 genomes]
rs2787388	0.86[ASN][1000 genomes]
rs2806692	0.86[ASN][1000 genomes]
rs2806693	0.83[ASN][1000 genomes]
rs2806694	0.83[ASN][1000 genomes]
rs2806695	0.85[ASN][1000 genomes]
rs2806696	0.86[ASN][1000 genomes]
rs2806702	0.90[ASN][1000 genomes]
rs2806703	0.87[ASN][1000 genomes]
rs28464821	0.95[ASN][1000 genomes]
rs3813712	0.90[ASN][1000 genomes]
rs3923501	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4128230	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4237194	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4237195	0.88[ASN][1000 genomes]
rs4237196	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4446782	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4742782	0.88[ASN][1000 genomes]
rs4742783	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4742784	0.95[ASN][1000 genomes]
rs4743392	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4743393	0.92[ASN][1000 genomes]
rs4743394	0.95[ASN][1000 genomes]
rs4743395	0.98[ASN][1000 genomes]
rs4743396	0.98[ASN][1000 genomes]
rs5029342	0.88[ASN][1000 genomes]
rs5029343	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59242794	0.95[ASN][1000 genomes]
rs6479008	0.85[ASN][1000 genomes]
rs6479009	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6479010	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6479011	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6479013	0.85[ASN][1000 genomes]
rs6479014	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7020988	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7021310	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7025891	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7025938	0.88[ASN][1000 genomes]
rs7035619	0.88[ASN][1000 genomes]
rs7036570	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7047694	0.92[ASN][1000 genomes]
rs7048601	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7472	0.88[ASN][1000 genomes]
rs7849966	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7852189	0.98[ASN][1000 genomes]
rs7854693	0.88[ASN][1000 genomes]
rs7860513	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7864494	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7869985	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7871702	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7874900	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7875775	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs914711	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9299338	0.98[ASN][1000 genomes]
rs944710	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs946054	0.85[ASN][1000 genomes]
rs959893	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9775014	0.84[ASN][1000 genomes]
rs9775182	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7866850	INVS	cis	Thyroid	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103113400-103116800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:103115800-103116800	Enhancers	Primary B cells from cord blood	blood
3	chr9:103115800-103117800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr9:103115800-103119400	Weak transcription	Ovary	ovary
5	chr9:103115800-103119800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:103115800-103119800	Weak transcription	HUVEC	blood vessel
7	chr9:103116000-103116800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:103116000-103117400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:103116200-103117600	Weak transcription	Fetal Intestine Large	intestine
10	chr9:103116200-103117800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr9:103116200-103118200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:103116200-103118400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr9:103116200-103118600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:103116200-103118800	Weak transcription	Right Ventricle	heart
15	chr9:103116200-103119200	Weak transcription	NHEK	skin
16	chr9:103116200-103119800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:103116200-103122400	Weak transcription	Fetal Heart	heart
18	chr9:103116200-103123400	Weak transcription	Fetal Muscle Leg	muscle
19	chr9:103116200-103126000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:103116400-103116800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr9:103116400-103116800	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr9:103116400-103117200	ZNF genes & repeats	K562	blood
23	chr9:103116400-103117600	Weak transcription	A549	lung
24	chr9:103116400-103118200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr9:103116400-103118400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr9:103116400-103118600	Weak transcription	Fetal Kidney	kidney
27	chr9:103116400-103119200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:103116600-103116800	Enhancers	GM12878-XiMat	blood
29	chr9:103116600-103117000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
30	chr9:103116600-103117000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr9:103116600-103117000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:103116600-103117200	Enhancers	HepG2	liver
33	chr9:103116600-103117400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr9:103116600-103120800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr9:103116600-103131000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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