Variant report

Variant	rs73656934
Chromosome Location	chr9:102861256-102861257
allele	C/G
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	POLR2A	chr9:102860231-102861995	GM12891	blood:	n/a	n/a
2	POLR2A	chr9:102860355-102862257	GM19099	blood:	n/a	n/a
3	RCOR1	chr9:102860278-102862229	K562	blood:	n/a	n/a
4	MYC	chr9:102861255-102861427	GM12878	blood:	n/a	n/a
5	CREB1	chr9:102860419-102862237	HepG2	liver:	n/a	n/a
6	POLR2A	chr9:102860836-102862321	HUVEC	blood vessel:	n/a	n/a
7	HA-E2F1	chr9:102860811-102862324	MCF-7	breast:	n/a	n/a
8	YY1	chr9:102861166-102862011	ECC-1	luminal epithelium:	n/a	n/a
9	ETS1	chr9:102861022-102861810	A549	lung:	n/a	chr9:102861512-102861525 chr9:102861350-102861363 chr9:102861315-102861325 chr9:102861317-102861326 chr9:102861511-102861524 chr9:102861317-102861326
10	ETS1	chr9:102860940-102861742	GM12878	blood:	n/a	chr9:102861512-102861525 chr9:102861350-102861363 chr9:102861315-102861325 chr9:102861317-102861326 chr9:102861511-102861524 chr9:102861317-102861326
11	SPI1	chr9:102861196-102861592	GM12891	blood:	n/a	n/a
12	TAF1	chr9:102860447-102861946	H1-hESC	embryonic stem cell:	n/a	n/a
13	SIN3AK20	chr9:102861093-102861495	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr9:102860546-102862066	NB4	blood:	n/a	n/a
15	CHD2	chr9:102860521-102862343	Hela-S3	cervix:	n/a	chr9:102861818-102861828 chr9:102862183-102862193
16	MAX	chr9:102861185-102861558	K562	blood:	n/a	n/a
17	CHD2	chr9:102860442-102861750	H1-hESC	embryonic stem cell:	n/a	n/a
18	TAF1	chr9:102861017-102861514	GM12891	blood:	n/a	n/a
19	POLR2A	chr9:102860509-102862278	Raji	blood:	n/a	n/a
20	ATF1	chr9:102861196-102861598	K562	blood:	n/a	n/a
21	TFAP2C	chr9:102860534-102862371	Hela-S3	cervix:	n/a	chr9:102860835-102860850
22	MAX	chr9:102861102-102861798	MCF-7	breast:	n/a	n/a
23	CREB1	chr9:102861052-102861861	A549	lung:	n/a	n/a
24	CEBPB	chr9:102861153-102862139	GM12878	blood:	n/a	chr9:102862034-102862043 chr9:102862034-102862043
25	MAZ	chr9:102860531-102862342	K562	blood:	n/a	chr9:102861825-102861835
26	POLR2A	chr9:102860319-102862220	GM12878	blood:	n/a	n/a
27	ARID3A	chr9:102860857-102861981	HepG2	liver:	n/a	n/a
28	PAX5	chr9:102861013-102861719	GM12878	blood:	n/a	chr9:102861425-102861444
29	PAX5	chr9:102861104-102861815	GM12892	blood:	n/a	chr9:102861425-102861444
30	UBTF	chr9:102860571-102862028	K562	blood:	n/a	n/a
31	POLR2A	chr9:102860457-102862257	H1-neurons	neurons:	n/a	n/a
32	BRCA1	chr9:102861151-102862415	Hela-S3	cervix:	n/a	n/a
33	ZNF384	chr9:102861056-102861803	K562	blood:	n/a	n/a
34	POLR2A	chr9:102861002-102861929	K562	blood:	n/a	n/a
35	SIX5	chr9:102861121-102861826	GM12878	blood:	n/a	chr9:102861349-102861363 chr9:102861352-102861361 chr9:102861350-102861359 chr9:102861515-102861524 chr9:102861511-102861525 chr9:102861513-102861522
36	POLR2A	chr9:102860994-102861413	ECC-1	luminal epithelium:	n/a	n/a
37	GABPA	chr9:102861100-102861517	GM12878	blood:	n/a	chr9:102861448-102861457
38	POLR2A	chr9:102860909-102861955	A549	lung:	n/a	n/a
39	TCF12	chr9:102861036-102861606	GM12878	blood:	n/a	n/a
40	POLR2A	chr9:102860488-102862154	GM15510	blood:	n/a	n/a
41	MAX	chr9:102860748-102862346	NB4	blood:	n/a	chr9:102861825-102861835
42	FOXA1	chr9:102861213-102861505	T-47D	breast:	n/a	n/a
43	POLR2A	chr9:102860405-102862329	GM18505	blood:	n/a	n/a
44	GTF2B	chr9:102861145-102861596	K562	blood:	n/a	n/a
45	NFYB	chr9:102861110-102861613	K562	blood:	n/a	n/a
46	MAX	chr9:102861109-102861910	ECC-1	luminal epithelium:	n/a	chr9:102861825-102861835
47	TAF1	chr9:102861098-102861440	GM12878	blood:	n/a	n/a
48	UBTF	chr9:102860637-102862010	K562	blood:	n/a	n/a
49	NR3C1	chr9:102861098-102861517	A549	lung:	n/a	n/a
50	BCLAF1	chr9:102860428-102862100	GM12878	blood:	n/a	chr9:102861317-102861326 chr9:102861219-102861228

No.	Distal block	Cell Line	Cell type
1	chr9:102859693..102862029-chr9:102863024..102865040,3	MCF-7	breast:
2	chr9:102860210..102863951-chr9:102865614..102871017,5	K562	blood:
3	chr9:102667836..102670748-chr9:102860445..102862735,2	K562	blood:
4	chr9:102848064..102853071-chr9:102854113..102861263,11	K562	blood:
5	chr9:102861067..102864152-chr9:102881091..102884307,4	K562	blood:
6	chr11:8710131..8710909-chr9:102861030..102861886,2	Hela-S3	cervix:
7	chr9:102581254..102583712-chr9:102860113..102863116,3	K562	blood:

Variant related genes	Relation type
RN7SL75P	TF binding region
INVS	TF binding region
ENSG00000119509	Chromatin interaction
ENSG00000237461	Chromatin interaction
ENSG00000255145	Chromatin interaction
ENSG00000270995	Chromatin interaction
ENSG00000136874	Chromatin interaction
ENSG00000239908	Chromatin interaction
ENSG00000166441	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1338122	1.00[AMR][1000 genomes]
rs1529194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16918894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55773628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55813162	1.00[AMR][1000 genomes]
rs56265710	1.00[AMR][1000 genomes]
rs57518655	1.00[AMR][1000 genomes]
rs59679784	1.00[AMR][1000 genomes]
rs59700543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60045005	1.00[AMR][1000 genomes]
rs61521457	1.00[AMR][1000 genomes]
rs61636243	1.00[AMR][1000 genomes]
rs73655135	1.00[AMR][1000 genomes]
rs73656926	1.00[AMR][1000 genomes]
rs73656927	1.00[AMR][1000 genomes]
rs73656929	1.00[AMR][1000 genomes]
rs73656930	1.00[AMR][1000 genomes]
rs73656932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73656933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73656935	1.00[AMR][1000 genomes]
rs73656937	1.00[AMR][1000 genomes]
rs73656938	1.00[AMR][1000 genomes]
rs73656939	1.00[AMR][1000 genomes]
rs73656949	1.00[AMR][1000 genomes]
rs73656950	1.00[AMR][1000 genomes]
rs73656951	1.00[AMR][1000 genomes]
rs73656954	1.00[AMR][1000 genomes]
rs73656955	1.00[AMR][1000 genomes]
rs73656957	1.00[AMR][1000 genomes]
rs7847283	1.00[AMR][1000 genomes]
rs7848856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7867381	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529618	chr9:102227922-103044018	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1048674	chr9:102752236-103038259	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1052007	chr9:102766948-103033937	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102859200-102862400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:102859200-102862600	Active TSS	GM12878-XiMat	blood
3	chr9:102859200-102862600	Active TSS	K562	blood
4	chr9:102859600-102862800	Active TSS	NHLF	lung
5	chr9:102859800-102862200	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr9:102860000-102862200	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr9:102860000-102862600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:102860000-102862600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr9:102860000-102862600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr9:102860000-102862600	Active TSS	NHDF-Ad	bronchial
11	chr9:102860000-102862800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr9:102860000-102862800	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr9:102860200-102862000	Active TSS	Colonic Mucosa	Colon
14	chr9:102860200-102862000	Active TSS	Rectal Smooth Muscle	rectum
15	chr9:102860200-102862000	Active TSS	HSMMtube	muscle
16	chr9:102860200-102862200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:102860200-102862200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:102860200-102862200	Active TSS	Esophagus	oesophagus
19	chr9:102860200-102862200	Active TSS	Gastric	stomach
20	chr9:102860200-102862200	Active TSS	Lung	lung
21	chr9:102860200-102862400	Active TSS	H1 Cell Line	embryonic stem cell
22	chr9:102860200-102862400	Active TSS	H9 Cell Line	embryonic stem cell
23	chr9:102860200-102862400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:102860200-102862400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr9:102860200-102862400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr9:102860200-102862400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr9:102860200-102862400	Active TSS	Aorta	Aorta
28	chr9:102860200-102862400	Active TSS	Fetal Muscle Trunk	muscle
29	chr9:102860200-102862400	Active TSS	Left Ventricle	heart
30	chr9:102860200-102862400	Active TSS	Ovary	ovary
31	chr9:102860200-102862400	Active TSS	Thymus	Thymus
32	chr9:102860200-102862600	Active TSS	Right Atrium	heart
33	chr9:102860200-102862600	Active TSS	A549	lung
34	chr9:102860200-102862800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr9:102860200-102862800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr9:102860200-102862800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr9:102860200-102862800	Active TSS	Right Ventricle	heart
38	chr9:102860400-102861800	Active TSS	Brain Germinal Matrix	brain
39	chr9:102860400-102862000	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr9:102860400-102862000	Active TSS	Pancreas	Pancrea
41	chr9:102860400-102862000	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr9:102860400-102862000	Active TSS	Small Intestine	intestine
43	chr9:102860400-102862000	Active TSS	Stomach Mucosa	stomach
44	chr9:102860400-102862200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr9:102860400-102862200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr9:102860400-102862200	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr9:102860400-102862200	Active TSS	Fetal Intestine Large	intestine
48	chr9:102860400-102862200	Active TSS	Fetal Intestine Small	intestine
49	chr9:102860400-102862400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr9:102860400-102862400	Bivalent/Poised TSS	HepG2	liver

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