Variant report

Variant	rs536396768
Chromosome Location	chr9:100850338-100850339
allele	G/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	BHLHE40	chr9:100850303-100850475	GM12878	blood:	n/a	n/a
2	RAD21	chr9:100849521-100850371	H1-hESC	embryonic stem cell:	n/a	n/a
3	TBP	chr9:100849664-100850359	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr9:100849490-100850630	H1-hESC	embryonic stem cell:	n/a	n/a
5	JUND	chr9:100850153-100850354	H1-hESC	embryonic stem cell:	n/a	n/a
6	TEAD4	chr9:100849661-100850419	H1-hESC	embryonic stem cell:	n/a	n/a
7	EGR1	chr9:100850207-100850432	K562	blood:	n/a	chr9:100850268-100850282
8	POLR2A	chr9:100849841-100850481	HUVEC	blood vessel:	n/a	n/a
9	E2F6	chr9:100849583-100850617	H1-hESC	embryonic stem cell:	n/a	n/a
10	USF2	chr9:100850096-100850349	H1-hESC	embryonic stem cell:	n/a	n/a
11	CREB1	chr9:100849592-100850437	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr9:100849180-100850440	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr9:100849039-100850396	Hela-S3	cervix:	n/a	n/a
14	EGR1	chr9:100850126-100850498	H1-hESC	embryonic stem cell:	n/a	chr9:100850268-100850282
15	EGR1	chr9:100850132-100850425	GM12878	blood:	n/a	chr9:100850268-100850282
16	BACH1	chr9:100850011-100850437	H1-hESC	embryonic stem cell:	n/a	n/a
17	SIN3A	chr9:100849560-100850550	H1-hESC	embryonic stem cell:	n/a	n/a
18	MYC	chr9:100849549-100850417	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr9:100849536-100850597	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr9:100849789-100850542	HUVEC	blood vessel:	n/a	n/a
21	NRF1	chr9:100850143-100850382	H1-hESC	embryonic stem cell:	n/a	n/a
22	EGR1	chr9:100850180-100850386	GM12878	blood:	n/a	chr9:100850268-100850282
23	POLR2A	chr9:100849604-100850489	HUVEC	blood vessel:	n/a	n/a
24	TCF3	chr9:100850005-100850433	GM12878	blood:	n/a	n/a
25	USF1	chr9:100849969-100850388	H1-hESC	embryonic stem cell:	n/a	n/a
26	NANOG	chr9:100849841-100850339	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr9:100850231-100850492	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr9:100846744-100850369	IMR90	lung:	n/a	n/a
29	POLR2A	chr9:100850292-100850370	K562	blood:	n/a	n/a
30	POLR2A	chr9:100849470-100850388	HL-60	blood:	n/a	n/a
31	POLR2A	chr9:100850013-100850340	GM12878	blood:	n/a	n/a
32	EGR1	chr9:100849983-100850523	H1-hESC	embryonic stem cell:	n/a	chr9:100850268-100850282
33	E2F6	chr9:100849444-100850640	H1-hESC	embryonic stem cell:	n/a	n/a
34	RUNX3	chr9:100850036-100850500	GM12878	blood:	n/a	n/a
35	SP1	chr9:100850090-100850539	H1-hESC	embryonic stem cell:	n/a	chr9:100850444-100850453 chr9:100850443-100850452 chr9:100850444-100850453 chr9:100850337-100850348 chr9:100850442-100850454 chr9:100850317-100850328 chr9:100850443-100850453 chr9:100850442-100850454
36	GTF2F1	chr9:100849684-100850393	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr9:100850199-100850461	K562	blood:	n/a	n/a
38	CTCF	chr9:100850280-100850430	HCM	heart:	n/a	n/a
39	MXI1	chr9:100849595-100850389	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr9:100849662-100850547	H1-hESC	embryonic stem cell:	n/a	n/a
41	CCNT2	chr9:100849898-100850349	K562	blood:	n/a	n/a
42	POLR2A	chr9:100849925-100850457	HUVEC	blood vessel:	n/a	n/a
43	MAX	chr9:100849468-100850666	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:100849256..100851636-chr9:100854662..100858526,4	MCF-7	breast:
2	chr9:100838071..100839825-chr9:100848704..100850871,2	K562	blood:
3	chr9:100850324..100853210-chr9:100878642..100880962,2	K562	blood:

Variant related genes	Relation type
TRIM14	TF binding region
ENSG00000106785	Chromatin interaction
ENSG00000095380	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482635	chr9:100775549-100953239	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1040483	chr9:100835325-100868437	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	esv3341074	chr9:100848756-100851304	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3440157	chr9:100849156-100851704	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 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	chr9:100838200-100852800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr9:100838600-100852000	Strong transcription	GM12878-XiMat	blood
3	chr9:100839400-100850400	Strong transcription	Dnd41	blood
4	chr9:100839400-100861800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr9:100839600-100850600	Strong transcription	Thymus	Thymus
6	chr9:100845000-100850600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr9:100845200-100853000	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr9:100845200-100856200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr9:100845200-100856600	Weak transcription	Small Intestine	intestine
10	chr9:100845800-100853600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr9:100846000-100862600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr9:100846200-100862200	Strong transcription	Duodenum Mucosa	Duodenum
13	chr9:100846400-100854200	Weak transcription	HSMMtube	muscle
14	chr9:100846400-100856400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr9:100846400-100861200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:100847400-100859400	Weak transcription	HepG2	liver
17	chr9:100847400-100869400	Weak transcription	A549	lung
18	chr9:100847600-100867000	Weak transcription	Hela-S3	cervix
19	chr9:100848600-100850400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr9:100848600-100850600	Enhancers	Placenta	Placenta
21	chr9:100849000-100850600	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr9:100849200-100853600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:100849200-100854400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr9:100849200-100856400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr9:100849400-100850600	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr9:100849600-100850400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr9:100849600-100850400	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr9:100849600-100850400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr9:100849600-100850400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr9:100849600-100850400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:100849600-100850400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
32	chr9:100849600-100850400	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr9:100849600-100850400	Flanking Active TSS	Esophagus	oesophagus
34	chr9:100849600-100850400	Flanking Active TSS	Fetal Muscle Leg	muscle
35	chr9:100849600-100850400	Flanking Active TSS	Gastric	stomach
36	chr9:100849600-100850400	ZNF genes & repeats	Pancreas	Pancrea
37	chr9:100849600-100850400	Enhancers	Stomach Mucosa	stomach
38	chr9:100849600-100850400	Genic enhancers	Spleen	Spleen
39	chr9:100849600-100850400	Enhancers	HMEC	breast
40	chr9:100849600-100850600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr9:100849600-100850600	Active TSS	Brain Germinal Matrix	brain
42	chr9:100849600-100850600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr9:100849600-100850600	Active TSS	Fetal Brain Female	brain
44	chr9:100849600-100850600	Flanking Active TSS	Osteobl	bone
45	chr9:100849600-100850800	Enhancers	Primary hematopoietic stem cells	blood
46	chr9:100849600-100851000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr9:100849600-100851800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr9:100849600-100852400	Weak transcription	K562	blood
49	chr9:100849600-100856400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr9:100849800-100850400	Active TSS	HUES48 Cell Line	embryonic stem cell

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