Variant report

Variant	rs370727606
Chromosome Location	chr9:98268396-98268397
allele	A/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	TAF1	chr9:98268321-98268724	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr9:98267921-98270672	HUVEC	blood vessel:	n/a	n/a
3	MXI1	chr9:98267312-98274672	IMR90	lung:	n/a	chr9:98273104-98273113 chr9:98269404-98269413
4	POLR2A	chr9:98267977-98272043	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr9:98268032-98269969	Hela-S3	cervix:	n/a	n/a
6	ZBTB7A	chr9:98268254-98269492	ECC-1	luminal epithelium:	n/a	chr9:98268981-98268990
7	UBTF	chr9:98267992-98271724	K562	blood:	n/a	n/a
8	TBP	chr9:98268324-98268698	H1-hESC	embryonic stem cell:	n/a	n/a
9	PAX5	chr9:98268069-98268779	GM12892	blood:	n/a	n/a
10	POLR2A	chr9:98268126-98268705	SK-N-SH	brain:	n/a	n/a
11	JUND	chr9:98268116-98268621	HepG2	liver:	n/a	n/a
12	POLR2A	chr9:98267962-98271933	GM12892	blood:	n/a	n/a
13	MAX	chr9:98268394-98268823	K562	blood:	n/a	n/a
14	ZMIZ1	chr9:98267987-98268726	K562	blood:	n/a	n/a
15	POLR2A	chr9:98268365-98268777	GM12878	blood:	n/a	n/a
16	EBF1	chr9:98267827-98270460	GM12878	blood:	n/a	chr9:98268878-98268889
17	PML	chr9:98268395-98268917	K562	blood:	n/a	n/a
18	POLR2A	chr9:98268360-98268798	SK-N-MC	brain:	n/a	n/a
19	SIN3AK20	chr9:98268272-98268807	PANC-1	pancreas:	n/a	n/a
20	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
21	EGR1	chr9:98267923-98268424	H1-hESC	embryonic stem cell:	n/a	chr9:98268283-98268296 chr9:98268278-98268292 chr9:98268277-98268290 chr9:98268049-98268062
22	POLR2A	chr9:98268067-98270930	Hela-S3	cervix:	n/a	n/a
23	ZBTB7A	chr9:98268339-98268589	HepG2	liver:	n/a	n/a
24	TAF1	chr9:98268337-98268606	HepG2	liver:	n/a	n/a
25	EP300	chr9:98267888-98268966	ECC-1	luminal epithelium:	n/a	chr9:98268587-98268596
26	HEY1	chr9:98267899-98268858	HepG2	liver:	n/a	n/a
27	MAZ	chr9:98267922-98270765	Hela-S3	cervix:	n/a	chr9:98269402-98269412 chr9:98268933-98268942
28	MYC	chr9:98267952-98270353	NB4	blood:	n/a	chr9:98269402-98269412 chr9:98268933-98268942
29	POLR2A	chr9:98268254-98269151	A549	lung:	n/a	n/a
30	TCF7L2	chr9:98268072-98268855	PANC-1	pancreas:	n/a	n/a
31	SMARCB1	chr9:98268002-98271392	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr9:98268168-98270457	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr9:98267858-98270619	K562	blood:	n/a	n/a
34	POLR2A	chr9:98267935-98270910	GM15510	blood:	n/a	n/a
35	JUN	chr9:98268002-98268400	K562	blood:	n/a	chr9:98268055-98268069
36	POLR2A	chr9:98268272-98269775	GM12878	blood:	n/a	n/a
37	POLR2A	chr9:98268303-98268725	HCT-116	colon:	n/a	n/a
38	SP1	chr9:98267817-98268810	A549	lung:	n/a	chr9:98268278-98268292 chr9:98268047-98268061 chr9:98268282-98268291 chr9:98268282-98268292
39	ZBTB7A	chr9:98268035-98269156	K562	blood:	n/a	chr9:98268981-98268990
40	TBL1XR1	chr9:98267906-98268836	K562	blood:	n/a	n/a
41	POLR2A	chr9:98267866-98270464	GM12878	blood:	n/a	n/a
42	TEAD4	chr9:98267792-98269911	K562	blood:	n/a	n/a
43	RUNX3	chr9:98267855-98270599	GM12878	blood:	n/a	n/a
44	TAF1	chr9:98268391-98269012	K562	blood:	n/a	n/a
45	POLR2A	chr9:98267946-98270837	GM19099	blood:	n/a	n/a
46	POLR2A	chr9:98268225-98270371	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD1	chr9:98267470-98268834	H1-hESC	embryonic stem cell:	n/a	n/a
48	TAF1	chr9:98268276-98268697	HepG2	liver:	n/a	n/a
49	JUND	chr9:98268022-98268782	A549	lung:	n/a	chr9:98268055-98268069
50	POLR2A	chr9:98268061-98270901	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:98188569..98190136-chr9:98266994..98268557,2	MCF-7	breast:
2	chr9:98243853..98250190-chr9:98264163..98273969,14	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	chr9:98078123..98080907-chr9:98268002..98270715,3	K562	blood:
7	chr9:98210232..98214386-chr9:98264282..98269915,4	K562	blood:
8	chr9:98253772..98257280-chr9:98266534..98270044,4	K562	blood:
9	chr9:98266714..98268433-chr9:98632145..98634773,2	MCF-7	breast:
10	chr9:98187644..98190286-chr9:98266151..98268622,2	K562	blood:

Variant related genes	Relation type
PTCH1	TF binding region
ENSG00000271155	TF binding region
ENSG00000158169	Chromatin interaction
ENSG00000271314	Chromatin interaction
ENSG00000237857	Chromatin interaction
ENSG00000185920	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	esv3403378	chr9:98267156-98269704	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98265800-98268600	Weak transcription	Stomach Mucosa	stomach
2	chr9:98265800-98271600	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr9:98266400-98271600	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr9:98266600-98275000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr9:98266800-98268600	Active TSS	Colonic Mucosa	Colon
6	chr9:98266800-98270000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:98267000-98268600	Active TSS	Fetal Stomach	stomach
8	chr9:98267000-98269800	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr9:98267000-98270400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr9:98267000-98274800	Active TSS	Sigmoid Colon	Sigmoid Colon
11	chr9:98267200-98273600	Active TSS	Right Atrium	heart
12	chr9:98267200-98274000	Active TSS	Fetal Intestine Large	intestine
13	chr9:98267200-98274200	Active TSS	Left Ventricle	heart
14	chr9:98267200-98274400	Active TSS	Ovary	ovary
15	chr9:98267400-98268600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:98267400-98272000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:98267400-98273800	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr9:98267400-98273800	Active TSS	Fetal Intestine Small	intestine
19	chr9:98267400-98273800	Active TSS	Fetal Kidney	kidney
20	chr9:98267400-98273800	Active TSS	Small Intestine	intestine
21	chr9:98267400-98274000	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr9:98267400-98274400	Active TSS	NHDF-Ad	bronchial
23	chr9:98267400-98274600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr9:98267400-98274800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:98267600-98269200	Active TSS	HMEC	breast
26	chr9:98267600-98271800	Active TSS	GM12878-XiMat	blood
27	chr9:98267600-98274000	Active TSS	H1 Cell Line	embryonic stem cell
28	chr9:98267600-98274000	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr9:98267600-98274000	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr9:98267600-98274000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr9:98267600-98274000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr9:98267600-98274000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:98267600-98274000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr9:98267600-98274000	Active TSS	Psoas Muscle	Psoas
35	chr9:98267600-98274200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr9:98267600-98274400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:98267600-98274400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:98267600-98274600	Active TSS	NHLF	lung
39	chr9:98267600-98274800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr9:98267800-98268400	Bivalent/Poised TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr9:98267800-98268600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr9:98267800-98268600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr9:98267800-98268600	Active TSS	Brain Germinal Matrix	brain
44	chr9:98267800-98268600	Weak transcription	Fetal Brain Male	brain
45	chr9:98267800-98268600	Active TSS	Stomach Smooth Muscle	stomach
46	chr9:98267800-98269000	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr9:98267800-98269200	Active TSS	Fetal Muscle Trunk	muscle
48	chr9:98267800-98270000	Active TSS	K562	blood
49	chr9:98267800-98270400	Bivalent/Poised TSS	HepG2	liver
50	chr9:98267800-98270600	Active TSS	Fetal Heart	heart

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