Variant report

Variant	rs576187046
Chromosome Location	chr9:102862350-102862351
allele	C/T
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	TFAP2C	chr9:102860534-102862371	Hela-S3	cervix:	n/a	chr9:102860835-102860850
2	BRCA1	chr9:102861151-102862415	Hela-S3	cervix:	n/a	n/a
3	SREBP1	chr9:102860148-102862462	GM12878	blood:	n/a	n/a
4	SIN3A	chr9:102860305-102862418	H1-hESC	embryonic stem cell:	n/a	n/a
5	REST	chr9:102861682-102862484	H1-neurons	neurons:	n/a	n/a
6	RUNX3	chr9:102860375-102862397	GM12878	blood:	n/a	n/a
7	MAFK	chr9:102861164-102862367	Hela-S3	cervix:	n/a	n/a
8	TEAD4	chr9:102862019-102862387	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3AK20	chr9:102860228-102862468	MCF-7	breast:	n/a	n/a
10	E2F4	chr9:102861279-102862394	MCF10A-Er-Src	breast:	n/a	n/a
11	MXI1	chr9:102860222-102862815	IMR90	lung:	n/a	n/a
12	TCF12	chr9:102860690-102862442	A549	lung:	n/a	chr9:102862214-102862222 chr9:102860779-102860786
13	MYC	chr9:102861302-102862395	MCF10A-Er-Src	breast:	n/a	chr9:102861825-102861835
14	HCFC1	chr9:102860073-102862658	Hela-S3	cervix:	n/a	n/a
15	MAX	chr9:102860391-102862442	A549	lung:	n/a	chr9:102861825-102861835
16	CEBPB	chr9:102861065-102862501	Hela-S3	cervix:	n/a	chr9:102862034-102862043 chr9:102862034-102862043
17	POLR2A	chr9:102860583-102862356	Hela-S3	cervix:	n/a	n/a
18	KAP1	chr9:102860465-102862443	HEK293	kidney:	n/a	n/a
19	POLR2A	chr9:102860407-102862406	HepG2	liver:	n/a	n/a
20	MAZ	chr9:102860389-102862414	IMR90	lung:	n/a	chr9:102861825-102861835
21	CEBPB	chr9:102861846-102862517	A549	lung:	n/a	chr9:102862034-102862043 chr9:102862034-102862043
22	MAX	chr9:102860937-102862354	A549	lung:	n/a	chr9:102861825-102861835
23	MAX	chr9:102860295-102862353	MCF-7	breast:	n/a	chr9:102861825-102861835
24	POLR2A	chr9:102860270-102862684	GM12891	blood:	n/a	n/a
25	RCOR1	chr9:102861002-102862383	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr9:102860314-102862580	MCF10A-Er-Src	breast:	n/a	n/a
27	MAX	chr9:102861085-102862384	ECC-1	luminal epithelium:	n/a	chr9:102861825-102861835
28	CEBPB	chr9:102861626-102862551	HepG2	liver:	n/a	chr9:102862034-102862043 chr9:102862034-102862043
29	CEBPB	chr9:102861825-102862403	K562	blood:	n/a	chr9:102862034-102862043 chr9:102862034-102862043
30	MYC	chr9:102860691-102862365	K562	blood:	n/a	chr9:102861825-102861835
31	POLR2A	chr9:102860318-102862373	HepG2	liver:	n/a	n/a
32	REST	chr9:102860286-102862685	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:102860210..102863951-chr9:102865614..102871017,5	K562	blood:
2	chr9:102667836..102670748-chr9:102860445..102862735,2	K562	blood:
3	chr15:45003558..45004176-chr9:102861994..102862803,2	Hela-S3	cervix:
4	chr9:102861067..102864152-chr9:102881091..102884307,4	K562	blood:
5	chr9:102581254..102583712-chr9:102860113..102863116,3	K562	blood:

Variant related genes	Relation type
INVS	TF binding region
RN7SL75P	TF binding region
ERP44	TF binding region
ENSG00000237461	Chromatin interaction
ENSG00000136874	Chromatin interaction
ENSG00000270995	Chromatin interaction
ENSG00000119509	Chromatin interaction
ENSG00000255145	Chromatin interaction
ENSG00000166710	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv3343459	chr9:102862156-102864304	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr9:102860000-102862600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:102860000-102862600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr9:102860000-102862600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr9:102860000-102862600	Active TSS	NHDF-Ad	bronchial
9	chr9:102860000-102862800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr9:102860000-102862800	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr9:102860200-102862400	Active TSS	H1 Cell Line	embryonic stem cell
12	chr9:102860200-102862400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr9:102860200-102862400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:102860200-102862400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:102860200-102862400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:102860200-102862400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr9:102860200-102862400	Active TSS	Aorta	Aorta
18	chr9:102860200-102862400	Active TSS	Fetal Muscle Trunk	muscle
19	chr9:102860200-102862400	Active TSS	Left Ventricle	heart
20	chr9:102860200-102862400	Active TSS	Ovary	ovary
21	chr9:102860200-102862400	Active TSS	Thymus	Thymus
22	chr9:102860200-102862600	Active TSS	Right Atrium	heart
23	chr9:102860200-102862600	Active TSS	A549	lung
24	chr9:102860200-102862800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:102860200-102862800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:102860200-102862800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:102860200-102862800	Active TSS	Right Ventricle	heart
28	chr9:102860400-102862400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr9:102860400-102862400	Bivalent/Poised TSS	HepG2	liver
30	chr9:102860400-102862400	Active TSS	NHEK	skin
31	chr9:102860400-102862600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:102860400-102862600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:102860400-102862600	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr9:102860400-102862600	Active TSS	HMEC	breast
35	chr9:102860400-102862800	Active TSS	Psoas Muscle	Psoas
36	chr9:102860600-102862400	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr9:102860600-102862400	Active TSS	Fetal Heart	heart
38	chr9:102860600-102862400	Active TSS	Fetal Kidney	kidney
39	chr9:102860600-102862600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr9:102860600-102862600	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr9:102860600-102862800	Active TSS	Hela-S3	cervix
42	chr9:102861000-102862400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr9:102861000-102862400	Active TSS	Brain Angular Gyrus	brain
44	chr9:102861000-102862600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr9:102861200-102862400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr9:102861200-102862800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:102861600-102862400	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr9:102861600-102862400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr9:102861600-102862400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr9:102861600-102862600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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