Variant report

Variant	rs2073837
Chromosome Location	chr9:136522928-136522929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr9:136522577-136525475	HepG2	liver:	n/a	n/a
2	POLR2A	chr9:136522809-136523106	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:136522927-136522977	SAEC	small airway:	n/a
2	chr9:136522927-136522977	NH-A	brain:	n/a
3	chr9:136522927-136522977	GM06990	blood:	n/a
4	chr9:136522927-136522977	PANC-1	pancreas:	n/a
5	chr9:136522927-136522977	AG04450	lung:	fetal
6	chr9:136522927-136522977	Hela-S3	cervix:	n/a
7	chr9:136522927-136522977	CMK	blood:	n/a
8	chr9:136522927-136522977	ECC-1	luminal epithelium:	n/a
9	chr9:136522927-136522977	HL-60	blood:	n/a
10	chr9:136522927-136522977	PrEC	prostate:	n/a
11	chr9:136522927-136522977	GM12878	blood:	n/a
12	chr9:136522927-136522977	HRE	kidney:	n/a
13	chr9:136522927-136522977	HUVEC	blood vessel:	n/a
14	chr9:136522927-136522977	HEK293	kidney:	embryo
15	chr9:136522927-136522977	MCF-7	breast:	n/a
16	chr9:136522927-136522977	HCM	heart:	n/a
17	chr9:136522927-136522977	HNPCEpiC	eye:	n/a
18	chr9:136522927-136522977	NHDF-neo	bronchial:	n/a
19	chr9:136522927-136522977	NB4	blood:	n/a
20	chr9:136522927-136522977	AG04449	skin:	fetal
21	chr9:136522927-136522977	RPTEC	kidney:	n/a
22	chr9:136522927-136522977	NT2-D1	testis:	n/a
23	chr9:136522927-136522977	IMR90	lung:	fetal
24	chr9:136522927-136522977	AG09309	skin:	n/a
25	chr9:136522927-136522977	AoSMC	blood vessel:	n/a
26	chr9:136522927-136522977	SK-N-SH_RA	brain:	n/a
27	chr9:136522927-136522977	GM19239	blood:	n/a
28	chr9:136522927-136522977	Jurkat	blood:	n/a
29	chr9:136522927-136522977	HAEpiC	amniotic membrane:	n/a
30	chr9:136522927-136522977	GM12892	blood:	n/a
31	chr9:136522927-136522977	Hepatocyte	liver:	n/a
32	chr9:136522927-136522977	HIPEpiC	eye:	n/a
33	chr9:136522927-136522977	HepG2	liver:	n/a
34	chr9:136522927-136522977	HCF	heart:	n/a
35	chr9:136522927-136522977	HCPEpiC	choroid plexus:	n/a
36	chr9:136522927-136522977	NHBE	bronchial:	n/a
37	chr9:136522927-136522977	SK-N-SH	brain:	n/a
38	chr9:136522927-136522977	LNCaP	prostate:	n/a
39	chr9:136522927-136522977	HCT-116	colon:	n/a
40	chr9:136522927-136522977	HPAEpiC	pulmonary alveolar:	n/a
41	chr9:136522927-136522977	Caco-2	colon:	n/a
42	chr9:136522927-136522977	SK-N-MC	brain:	n/a
43	chr9:136522927-136522977	ovcar-3	ovarian:	n/a
44	chr9:136522927-136522977	K562	blood:	n/a
45	chr9:136522927-136522977	BJ	skin:	n/a
46	chr9:136522927-136522977	SKMC	muscle:	n/a
47	chr9:136522927-136522977	AG09319	gingival:	n/a
48	chr9:136522927-136522977	HEEpiC	esophagus:	n/a
49	chr9:136522927-136522977	HRCEpiC	kidney:	n/a
50	chr9:136522927-136522977	MCF10A-Er-Src	breast:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:136492846..136495441-chr9:136522709..136525633,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SARDH-1	chr9:136522216-136525145	NONHSAT135332
2	lnc-SARDH-1	chr9:136522249-136524916	NONHSAT135333

No data

Variant related genes	Relation type
DBH-AS1	TF binding region
DBH-AS1	CpG island

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10993952	0.81[EUR][1000 genomes]
rs10993953	0.87[EUR][1000 genomes]
rs10993956	0.85[EUR][1000 genomes]
rs129888	0.87[EUR][1000 genomes]
rs129915	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs129927	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs129928	0.89[EUR][1000 genomes]
rs1611131	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs2073835	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs2073836	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2519127	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894081	chr9:136227260-136678954	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv894086	chr9:136281753-136657960	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv894094	chr9:136311679-136528721	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv530972	chr9:136324358-136643044	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv894100	chr9:136371224-136547602	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv870051	chr9:136459745-136656889	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv894106	chr9:136489539-136566959	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv894107	chr9:136494566-136579589	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv894108	chr9:136507473-136617292	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv894109	chr9:136512515-136522985	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv894110	chr9:136512515-136542868	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv466619	chr9:136515297-136528721	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv615640	chr9:136515297-136528721	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136515000-136523400	Weak transcription	Spleen	Spleen
2	chr9:136520200-136524200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr9:136520400-136523600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:136520400-136525800	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr9:136520600-136523000	Weak transcription	Right Atrium	heart
6	chr9:136520800-136523400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:136521000-136526600	Enhancers	Liver	Liver
8	chr9:136521200-136523000	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr9:136521200-136523400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr9:136521200-136523800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr9:136521400-136523000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr9:136521400-136523000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr9:136521400-136525200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr9:136521800-136525200	Bivalent Enhancer	Fetal Brain Male	brain
15	chr9:136522000-136523600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr9:136522000-136525200	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr9:136522200-136523400	Enhancers	HepG2	liver
18	chr9:136522200-136523600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
19	chr9:136522200-136523600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
20	chr9:136522200-136524400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr9:136522200-136524400	Enhancers	Ovary	ovary
22	chr9:136522400-136523400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:136522400-136523400	Weak transcription	Gastric	stomach
24	chr9:136522400-136523400	Weak transcription	Pancreas	Pancrea
25	chr9:136522400-136525400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr9:136522400-136526000	Bivalent Enhancer	Fetal Thymus	thymus
27	chr9:136522600-136523400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr9:136522600-136523600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:136522600-136523600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr9:136522800-136523600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr9:136522800-136523600	Enhancers	Brain Anterior Caudate	brain
32	chr9:136522800-136523600	Bivalent Enhancer	Brain Germinal Matrix	brain
33	chr9:136522800-136523600	Bivalent Enhancer	Fetal Brain Female	brain
34	chr9:136522800-136523600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr9:136522800-136523600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
36	chr9:136522800-136523800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr9:136522800-136523800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr9:136522800-136523800	Bivalent Enhancer	Fetal Lung	lung
39	chr9:136522800-136525000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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