Variant report

Variant	rs568383821
Chromosome Location	chr9:98269987-98269988
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	POLR2A	chr9:98267921-98270672	HUVEC	blood vessel:	n/a	n/a
2	MXI1	chr9:98267312-98274672	IMR90	lung:	n/a	chr9:98273104-98273113 chr9:98269404-98269413
3	POLR2A	chr9:98267977-98272043	Hela-S3	cervix:	n/a	n/a
4	TEAD4	chr9:98269286-98270577	ECC-1	luminal epithelium:	n/a	n/a
5	UBTF	chr9:98267992-98271724	K562	blood:	n/a	n/a
6	FOSL2	chr9:98269618-98270577	A549	lung:	n/a	chr9:98269836-98269850
7	POLR2A	chr9:98269890-98270652	ECC-1	luminal epithelium:	n/a	n/a
8	TBP	chr9:98269125-98270595	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr9:98267962-98271933	GM12892	blood:	n/a	n/a
10	CHD1	chr9:98269359-98270459	H1-hESC	embryonic stem cell:	n/a	n/a
11	EBF1	chr9:98267827-98270460	GM12878	blood:	n/a	chr9:98268878-98268889
12	FOXA2	chr9:98269512-98270531	A549	lung:	n/a	n/a
13	EP300	chr9:98269903-98270107	SK-N-SH_RA	brain:	n/a	n/a
14	SIN3A	chr9:98266518-98275316	H1-hESC	embryonic stem cell:	n/a	chr9:98268478-98268491 chr9:98273259-98273270 chr9:98273104-98273113 chr9:98271212-98271225 chr9:98270756-98270767 chr9:98271270-98271279 chr9:98272257-98272268 chr9:98273102-98273111 chr9:98271251-98271264
15	CEBPD	chr9:98269834-98270200	HepG2	liver:	n/a	n/a
16	EGR1	chr9:98269519-98270006	H1-hESC	embryonic stem cell:	n/a	n/a
17	SIN3AK20	chr9:98269890-98270495	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr9:98268067-98270930	Hela-S3	cervix:	n/a	n/a
19	SIN3AK20	chr9:98269151-98270682	HCT-116	colon:	n/a	n/a
20	EP300	chr9:98269206-98270588	A549	lung:	n/a	chr9:98269627-98269643 chr9:98269628-98269644 chr9:98270408-98270422 chr9:98269417-98269426
21	MAZ	chr9:98267922-98270765	Hela-S3	cervix:	n/a	chr9:98269402-98269412 chr9:98268933-98268942
22	MYC	chr9:98267952-98270353	NB4	blood:	n/a	chr9:98269402-98269412 chr9:98268933-98268942
23	ZBTB7A	chr9:98269955-98270235	HepG2	liver:	n/a	n/a
24	SMARCB1	chr9:98268002-98271392	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr9:98268168-98270457	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr9:98267858-98270619	K562	blood:	n/a	n/a
27	SIN3AK20	chr9:98269380-98270569	A549	lung:	n/a	n/a
28	POLR2A	chr9:98267935-98270910	GM15510	blood:	n/a	n/a
29	TAF1	chr9:98269684-98270109	GM12878	blood:	n/a	n/a
30	ZNF143	chr9:98269733-98270126	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr9:98267866-98270464	GM12878	blood:	n/a	n/a
32	POLR2A	chr9:98268890-98270576	SK-N-MC	brain:	n/a	n/a
33	IRF1	chr9:98269566-98270160	K562	blood:	n/a	chr9:98269907-98269920 chr9:98269907-98269920 chr9:98269908-98269920 chr9:98269927-98269941 chr9:98269906-98269920 chr9:98269928-98269941
34	GATA3	chr9:98269404-98270646	SK-N-SH	brain:	n/a	n/a
35	SPI1	chr9:98269890-98270122	GM12878	blood:	n/a	n/a
36	TCF12	chr9:98268998-98270496	SK-N-SH	brain:	n/a	chr9:98269495-98269502
37	RUNX3	chr9:98267855-98270599	GM12878	blood:	n/a	n/a
38	POLR2A	chr9:98267946-98270837	GM19099	blood:	n/a	n/a
39	STAT3	chr9:98269787-98270359	MCF10A-Er-Src	breast:	n/a	chr9:98269929-98269940 chr9:98269865-98269888
40	SPI1	chr9:98269830-98270086	GM12891	blood:	n/a	n/a
41	POLR2A	chr9:98268225-98270371	H1-hESC	embryonic stem cell:	n/a	n/a
42	ATF2	chr9:98269704-98270383	GM12878	blood:	n/a	n/a
43	POLR2A	chr9:98269914-98270709	H1-neurons	neurons:	n/a	n/a
44	CCNT2	chr9:98269535-98271524	K562	blood:	n/a	n/a
45	POLR2A	chr9:98268061-98270901	NB4	blood:	n/a	n/a
46	ZBTB7A	chr9:98269890-98270291	K562	blood:	n/a	n/a
47	SP1	chr9:98269310-98270585	A549	lung:	n/a	n/a
48	NFIC	chr9:98269381-98270273	SK-N-SH	brain:	n/a	n/a
49	MAFK	chr9:98269298-98270040	Hela-S3	cervix:	n/a	n/a
50	MYC	chr9:98267876-98270893	K562	blood:	n/a	chr9:98269402-98269412 chr9:98268933-98268942

No.	Distal block	Cell Line	Cell type
1	chr9:98243853..98250190-chr9:98264163..98273969,14	MCF-7	breast:
2	chr9:98187696..98190762-chr9:98268567..98271378,5	MCF-7	breast:
3	chr9:98078830..98081414-chr9:98266391..98270806,3	MCF-7	breast:
4	chr9:98187685..98192036-chr9:98266677..98274746,12	MCF-7	breast:
5	chr9:98187278..98190652-chr9:98265637..98273315,6	K562	blood:
6	chr9:98186276..98191956-chr9:98269234..98276633,9	K562	blood:
7	chr9:98078123..98080907-chr9:98268002..98270715,3	K562	blood:
8	chr9:98253772..98257280-chr9:98266534..98270044,4	K562	blood:
9	chr9:98262143..98268122-chr9:98269863..98275996,9	MCF-7	breast:
10	chr9:98254778..98257186-chr9:98269292..98272061,2	MCF-7	breast:

Variant related genes	Relation type
PTCH1	TF binding region
ENSG00000237857	Chromatin interaction
ENSG00000158169	Chromatin interaction
ENSG00000185920	Chromatin interaction
ENSG00000271314	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531633	chr9:98078300-98431120	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv831658	chr9:98152971-98342178	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv430083	chr9:98204245-98445645	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv824994	chr9:98239963-98314431	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv824995	chr9:98243455-98326547	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv824996	chr9:98245375-98283861	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv3327711	chr9:98266981-98273279	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3396612	chr9:98269556-98272304	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98265800-98271600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr9:98266400-98271600	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr9:98266600-98275000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr9:98266800-98270000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:98267000-98270400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr9:98267000-98274800	Active TSS	Sigmoid Colon	Sigmoid Colon
7	chr9:98267200-98273600	Active TSS	Right Atrium	heart
8	chr9:98267200-98274000	Active TSS	Fetal Intestine Large	intestine
9	chr9:98267200-98274200	Active TSS	Left Ventricle	heart
10	chr9:98267200-98274400	Active TSS	Ovary	ovary
11	chr9:98267400-98272000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:98267400-98273800	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr9:98267400-98273800	Active TSS	Fetal Intestine Small	intestine
14	chr9:98267400-98273800	Active TSS	Fetal Kidney	kidney
15	chr9:98267400-98273800	Active TSS	Small Intestine	intestine
16	chr9:98267400-98274000	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr9:98267400-98274400	Active TSS	NHDF-Ad	bronchial
18	chr9:98267400-98274600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr9:98267400-98274800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr9:98267600-98271800	Active TSS	GM12878-XiMat	blood
21	chr9:98267600-98274000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr9:98267600-98274000	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr9:98267600-98274000	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr9:98267600-98274000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr9:98267600-98274000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:98267600-98274000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:98267600-98274000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr9:98267600-98274000	Active TSS	Psoas Muscle	Psoas
29	chr9:98267600-98274200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr9:98267600-98274400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:98267600-98274400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:98267600-98274600	Active TSS	NHLF	lung
33	chr9:98267600-98274800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr9:98267800-98270000	Active TSS	K562	blood
35	chr9:98267800-98270400	Bivalent/Poised TSS	HepG2	liver
36	chr9:98267800-98270600	Active TSS	Fetal Heart	heart
37	chr9:98267800-98271600	Active TSS	Hela-S3	cervix
38	chr9:98267800-98271800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr9:98267800-98272200	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr9:98267800-98273600	Active TSS	Lung	lung
41	chr9:98267800-98273800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr9:98267800-98273800	Active TSS	Duodenum Mucosa	Duodenum
43	chr9:98267800-98273800	Active TSS	HSMMtube	muscle
44	chr9:98267800-98274000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr9:98267800-98274000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr9:98267800-98274000	Active TSS	Placenta Amnion	Placenta Amnion
47	chr9:98267800-98274000	Active TSS	A549	lung
48	chr9:98267800-98274200	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr9:98267800-98274200	Active TSS	Aorta	Aorta
50	chr9:98267800-98274200	Active TSS	Brain Cingulate Gyrus	brain

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