Variant report

Variant	rs370681675
Chromosome Location	chr9:98267843-98267844
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	MXI1	chr9:98267312-98274672	IMR90	lung:	n/a	chr9:98273104-98273113 chr9:98269404-98269413
2	CTCF	chr9:98267336-98268145	K562	blood:	n/a	n/a
3	EBF1	chr9:98267827-98270460	GM12878	blood:	n/a	chr9:98268878-98268889
4	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
5	SP1	chr9:98267817-98268810	A549	lung:	n/a	chr9:98268278-98268292 chr9:98268047-98268061 chr9:98268282-98268291 chr9:98268282-98268292
6	TEAD4	chr9:98267792-98269911	K562	blood:	n/a	n/a
7	CHD1	chr9:98267470-98268834	H1-hESC	embryonic stem cell:	n/a	n/a
8	EGR1	chr9:98267812-98269327	K562	blood:	n/a	chr9:98269109-98269122 chr9:98268283-98268296 chr9:98268278-98268292 chr9:98268977-98268990 chr9:98268277-98268290 chr9:98268931-98268944 chr9:98268991-98269001 chr9:98268049-98268062
9	EGR1	chr9:98267829-98268716	ECC-1	luminal epithelium:	n/a	chr9:98268283-98268296 chr9:98268278-98268292 chr9:98268277-98268290 chr9:98268049-98268062
10	MAX	chr9:98267832-98270642	K562	blood:	n/a	chr9:98269402-98269412 chr9:98268933-98268942
11	SREBP1	chr9:98267175-98269407	GM12878	blood:	n/a	n/a
12	NFIC	chr9:98267739-98268874	ECC-1	luminal epithelium:	n/a	n/a
13	MYC	chr9:98267718-98267918	MCF10A-Er-Src	breast:	n/a	n/a
14	RELA	chr9:98267793-98270571	GM12891	blood:	n/a	n/a
15	REST	chr9:98267183-98274539	H1-neurons	neurons:	n/a	chr9:98270976-98270989 chr9:98268273-98268286 chr9:98271222-98271240 chr9:98270100-98270109 chr9:98270699-98270717 chr9:98271458-98271466 chr9:98268565-98268575 chr9:98271242-98271255 chr9:98269758-98269778
16	ZNF384	chr9:98267836-98268265	K562	blood:	n/a	n/a
17	MTA3	chr9:98267734-98268194	GM12878	blood:	n/a	n/a
18	EGR1	chr9:98267779-98269196	HCT-116	colon:	n/a	chr9:98269109-98269122 chr9:98268283-98268296 chr9:98268278-98268292 chr9:98268977-98268990 chr9:98268277-98268290 chr9:98268931-98268944 chr9:98268991-98269001 chr9:98268049-98268062
19	IRF1	chr9:98267645-98268891	K562	blood:	n/a	chr9:98267733-98267743 chr9:98267729-98267743 chr9:98267731-98267745 chr9:98267733-98267744
20	MAZ	chr9:98267802-98270835	K562	blood:	n/a	chr9:98269402-98269412 chr9:98268933-98268942
21	MAX	chr9:98267783-98271004	A549	lung:	n/a	chr9:98269402-98269412 chr9:98268933-98268942
22	NFIC	chr9:98267793-98269255	ECC-1	luminal epithelium:	n/a	n/a
23	MAZ	chr9:98267684-98272191	IMR90	lung:	n/a	chr9:98269402-98269412 chr9:98268933-98268942
24	POLR2A	chr9:98267742-98270561	SK-N-MC	brain:	n/a	n/a
25	MAZ	chr9:98267631-98270596	GM12878	blood:	n/a	chr9:98269402-98269412 chr9:98268933-98268942
26	TCF12	chr9:98267802-98268400	A549	lung:	n/a	n/a
27	STAT3	chr9:98267796-98267996	MCF10A-Er-Src	breast:	n/a	n/a
28	MXI1	chr9:98267369-98275571	SK-N-SH	brain:	n/a	chr9:98273104-98273113 chr9:98269404-98269413
29	NFIC	chr9:98267776-98268377	SK-N-SH	brain:	n/a	n/a
30	MXI1	chr9:98267831-98270429	GM12878	blood:	n/a	chr9:98269404-98269413
31	JUND	chr9:98267713-98269326	GM12878	blood:	n/a	chr9:98268055-98268069
32	IRF1	chr9:98267775-98268245	K562	blood:	n/a	n/a
33	JUND	chr9:98267827-98270698	SK-N-SH	brain:	n/a	chr9:98269836-98269850 chr9:98268055-98268069
34	CHD1	chr9:98267807-98270342	GM12878	blood:	n/a	n/a
35	MYC	chr9:98267473-98270521	K562	blood:	n/a	chr9:98269402-98269412 chr9:98268933-98268942
36	JUND	chr9:98267471-98268601	H1-hESC	embryonic stem cell:	n/a	chr9:98268055-98268069
37	CHD1	chr9:98266325-98275163	IMR90	lung:	n/a	chr9:98271086-98271096 chr9:98274530-98274540
38	POLR2A	chr9:98267830-98270500	GM12891	blood:	n/a	n/a
39	EGR1	chr9:98267819-98269060	HCT-116	colon:	n/a	chr9:98268283-98268296 chr9:98268278-98268292 chr9:98268977-98268990 chr9:98268277-98268290 chr9:98268931-98268944 chr9:98268991-98269001 chr9:98268049-98268062

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	chr9:98246124..98248586-chr9:98264978..98268110,3	K562	blood:
5	chr9:98187685..98192036-chr9:98266677..98274746,12	MCF-7	breast:
6	chr9:98187278..98190652-chr9:98265637..98273315,6	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	chr9:98262143..98268122-chr9:98269863..98275996,9	MCF-7	breast:
11	chr9:98187644..98190286-chr9:98266151..98268622,2	K562	blood:

Variant related genes	Relation type
PTCH1	TF binding region
ENSG00000271155	TF binding region
ENSG00000185920	Chromatin interaction
ENSG00000158169	Chromatin interaction
ENSG00000271314	Chromatin interaction
ENSG00000237857	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98264600-98268000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr9:98264600-98268000	Weak transcription	Gastric	stomach
3	chr9:98265800-98268600	Weak transcription	Stomach Mucosa	stomach
4	chr9:98265800-98271600	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr9:98266400-98268000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr9:98266400-98268000	Transcr. at gene 5' and 3'	Fetal Lung	lung
7	chr9:98266400-98271600	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr9:98266600-98268000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:98266600-98268000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr9:98266600-98268000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr9:98266600-98275000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr9:98266800-98268600	Active TSS	Colonic Mucosa	Colon
13	chr9:98266800-98270000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:98267000-98268000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:98267000-98268000	Flanking Active TSS	Fetal Brain Female	brain
16	chr9:98267000-98268600	Active TSS	Fetal Stomach	stomach
17	chr9:98267000-98269800	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr9:98267000-98270400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr9:98267000-98274800	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr9:98267200-98268000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:98267200-98268000	Weak transcription	Esophagus	oesophagus
22	chr9:98267200-98273600	Active TSS	Right Atrium	heart
23	chr9:98267200-98274000	Active TSS	Fetal Intestine Large	intestine
24	chr9:98267200-98274200	Active TSS	Left Ventricle	heart
25	chr9:98267200-98274400	Active TSS	Ovary	ovary
26	chr9:98267400-98268000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr9:98267400-98268000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr9:98267400-98268000	Flanking Active TSS	Rectal Smooth Muscle	rectum
29	chr9:98267400-98268600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr9:98267400-98272000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:98267400-98273800	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr9:98267400-98273800	Active TSS	Fetal Intestine Small	intestine
33	chr9:98267400-98273800	Active TSS	Fetal Kidney	kidney
34	chr9:98267400-98273800	Active TSS	Small Intestine	intestine
35	chr9:98267400-98274000	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr9:98267400-98274400	Active TSS	NHDF-Ad	bronchial
37	chr9:98267400-98274600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr9:98267400-98274800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr9:98267600-98268000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr9:98267600-98268000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
41	chr9:98267600-98268000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
42	chr9:98267600-98268000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr9:98267600-98268000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
44	chr9:98267600-98268000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
45	chr9:98267600-98268000	Flanking Active TSS	Liver	Liver
46	chr9:98267600-98268000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr9:98267600-98268000	Flanking Active TSS	Fetal Muscle Leg	muscle
48	chr9:98267600-98268000	Bivalent/Poised TSS	Thymus	Thymus
49	chr9:98267600-98268000	Flanking Active TSS	HUVEC	blood vessel
50	chr9:98267600-98268000	Flanking Active TSS	NHEK	skin

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