Variant report

Variant	rs386736405
Chromosome Location	chr9:96717778-96717779
allele	CC/GA
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	chr9:96717488-96717998	A549	lung:	n/a	n/a
2	ZNF143	chr9:96717758-96718085	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr9:96717698-96718084	PANC-1	pancreas:	n/a	n/a
4	TCF7L2	chr9:96717737-96718216	PANC-1	pancreas:	n/a	n/a
5	E2F6	chr9:96717588-96718179	A549	lung:	n/a	n/a
6	MAX	chr9:96717543-96718283	ECC-1	luminal epithelium:	n/a	chr9:96718083-96718093 chr9:96717947-96717956
7	ZBTB7A	chr9:96717542-96718338	ECC-1	luminal epithelium:	n/a	chr9:96717635-96717644
8	CREB1	chr9:96717701-96718246	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr9:96717766-96717935	A549	lung:	n/a	n/a
10	POLR2A	chr9:96716169-96718368	Hela-S3	cervix:	n/a	n/a
11	E2F6	chr9:96717620-96718035	A549	lung:	n/a	n/a
12	POLR2A	chr9:96717708-96717880	A549	lung:	n/a	n/a
13	MAX	chr9:96717625-96718311	ECC-1	luminal epithelium:	n/a	chr9:96718083-96718093 chr9:96717947-96717956
14	NFIC	chr9:96717683-96718044	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr9:96717704-96717965	ECC-1	luminal epithelium:	n/a	n/a
16	MAX	chr9:96717738-96718009	H1-hESC	embryonic stem cell:	n/a	chr9:96717947-96717956
17	USF1	chr9:96717697-96718011	ECC-1	luminal epithelium:	n/a	n/a
18	MAX	chr9:96717769-96718089	A549	lung:	n/a	chr9:96717947-96717956
19	ZBTB7A	chr9:96717532-96718337	ECC-1	luminal epithelium:	n/a	chr9:96717635-96717644
20	MAX	chr9:96717691-96718261	A549	lung:	n/a	chr9:96718083-96718093 chr9:96717947-96717956
21	MAX	chr9:96717597-96718204	H1-hESC	embryonic stem cell:	n/a	chr9:96718083-96718093 chr9:96717947-96717956
22	POLR2A	chr9:96717765-96718115	H1-neurons	neurons:	n/a	n/a
23	SIN3A	chr9:96717750-96718284	H1-hESC	embryonic stem cell:	n/a	chr9:96717791-96717800
24	CTBP2	chr9:96717720-96718392	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr9:96717718-96718119	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr9:96717435-96718196	HEK293	kidney:	n/a	n/a
27	MAX	chr9:96717509-96718383	A549	lung:	n/a	chr9:96718083-96718093 chr9:96717947-96717956
28	POLR2A	chr9:96717764-96717894	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr9:96717716-96718108	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:96709646..96715968-chr9:96715980..96721050,10	MCF-7	breast:
2	chr9:96713619..96716485-chr9:96717370..96719166,2	K562	blood:

Variant related genes	Relation type
ENSG00000235601	TF binding region
BARX1	TF binding region
ENSG00000131668	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv893589	chr9:96624645-96884544	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv824993	chr9:96699362-96725105	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv893590	chr9:96701287-96729129	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3442102	chr9:96716156-96718704	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3412213	chr9:96716656-96718704	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96713800-96717800	Bivalent Enhancer	Liver	Liver
2	chr9:96713800-96718400	Bivalent Enhancer	Lung	lung
3	chr9:96714200-96717800	Enhancers	Pancreas	Pancrea
4	chr9:96715000-96718800	Bivalent Enhancer	Spleen	Spleen
5	chr9:96716200-96718200	Active TSS	Osteobl	bone
6	chr9:96716400-96717800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr9:96716400-96718400	Active TSS	Hela-S3	cervix
8	chr9:96716400-96718600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr9:96716400-96718600	Bivalent/Poised TSS	Fetal Stomach	stomach
10	chr9:96716400-96718800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr9:96716600-96717800	Bivalent Enhancer	Primary B cells from cord blood	blood
12	chr9:96716600-96717800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:96716800-96717800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
14	chr9:96716800-96718400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr9:96716800-96718400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr9:96716800-96718400	Active TSS	A549	lung
17	chr9:96717000-96717800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr9:96717000-96717800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr9:96717000-96717800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
20	chr9:96717000-96717800	Bivalent/Poised TSS	Fetal Brain Female	brain
21	chr9:96717000-96717800	Bivalent/Poised TSS	HMEC	breast
22	chr9:96717000-96718000	Bivalent/Poised TSS	Psoas Muscle	Psoas
23	chr9:96717000-96718000	Active TSS	Right Atrium	heart
24	chr9:96717000-96718200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr9:96717000-96718200	Bivalent/Poised TSS	Ovary	ovary
26	chr9:96717000-96718400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr9:96717000-96718800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
28	chr9:96717000-96719200	Active TSS	Stomach Smooth Muscle	stomach
29	chr9:96717200-96717800	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr9:96717200-96717800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
31	chr9:96717200-96717800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr9:96717200-96717800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
33	chr9:96717200-96717800	Bivalent/Poised TSS	Right Ventricle	heart
34	chr9:96717200-96717800	Bivalent Enhancer	NH-A	brain
35	chr9:96717200-96718000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:96717200-96718000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:96717200-96718000	Active TSS	Aorta	Aorta
38	chr9:96717400-96717800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr9:96717400-96717800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr9:96717400-96717800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr9:96717400-96717800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr9:96717400-96717800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr9:96717400-96718000	Bivalent/Poised TSS	Thymus	Thymus
44	chr9:96717600-96717800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr9:96717600-96717800	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr9:96717600-96717800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
47	chr9:96717600-96717800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr9:96717600-96717800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr9:96717600-96717800	Active TSS	Esophagus	oesophagus
50	chr9:96717600-96717800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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