Variant report

Variant	rs568028434
Chromosome Location	chr9:71940333-71940334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr9:71939651-71940361	ECC-1	luminal epithelium:	n/a	chr9:71940254-71940264
2	MAX	chr9:71939343-71940350	H1-hESC	embryonic stem cell:	n/a	chr9:71940260-71940269 chr9:71940289-71940299
3	MAX	chr9:71939328-71940369	H1-hESC	embryonic stem cell:	n/a	chr9:71940260-71940269 chr9:71940289-71940299
4	POLR2A	chr9:71939853-71940471	HUVEC	blood vessel:	n/a	n/a
5	SIN3A	chr9:71939340-71941514	H1-hESC	embryonic stem cell:	n/a	chr9:71939943-71939956 chr9:71940048-71940061
6	EP300	chr9:71939316-71940840	ECC-1	luminal epithelium:	n/a	chr9:71940177-71940193 chr9:71940486-71940502 chr9:71940180-71940196 chr9:71940022-71940038
7	POLR2A	chr9:71939176-71940373	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr9:71939319-71940421	ECC-1	luminal epithelium:	n/a	chr9:71940260-71940269 chr9:71940289-71940299
9	POLR2A	chr9:71939328-71940693	H1-hESC	embryonic stem cell:	n/a	n/a
10	TAF1	chr9:71939792-71940351	ECC-1	luminal epithelium:	n/a	n/a
11	ZNF263	chr9:71939402-71940751	HEK293-T-REx	kidney:	n/a	chr9:71940097-71940118
12	POLR2A	chr9:71939321-71940797	MCF-7	breast:	n/a	n/a
13	SMARCB1	chr9:71939441-71940788	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr9:71939495-71940662	MCF-7	breast:	n/a	n/a
15	POLR2A	chr9:71939454-71940621	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:71940287-71940337	RPTEC	kidney:	n/a
2	chr9:71940287-71940337	HPAEpiC	pulmonary alveolar:	n/a
3	chr9:71940287-71940337	AG10803	skin:	n/a
4	chr9:71940287-71940337	NH-A	brain:	n/a
5	chr9:71940287-71940337	ECC-1	luminal epithelium:	n/a
6	chr9:71940287-71940337	NHDF-neo	bronchial:	n/a
7	chr9:71940287-71940337	PANC-1	pancreas:	n/a
8	chr9:71940287-71940337	HRE	kidney:	n/a
9	chr9:71940287-71940337	BE2_C	brain:	n/a
10	chr9:71940287-71940337	PrEC	prostate:	n/a
11	chr9:71940287-71940337	NB4	blood:	n/a
12	chr9:71940287-71940337	SK-N-SH_RA	brain:	n/a
13	chr9:71940287-71940337	T-47D	breast:	n/a
14	chr9:71940287-71940337	HEK293	kidney:	embryo
15	chr9:71940287-71940337	SAEC	small airway:	n/a
16	chr9:71940287-71940337	HRPEpiC	eye:	n/a
17	chr9:71940287-71940337	Caco-2	colon:	n/a
18	chr9:71940287-71940337	GM19239	blood:	n/a
19	chr9:71940287-71940337	SKMC	muscle:	n/a
20	chr9:71940287-71940337	NHBE	bronchial:	n/a
21	chr9:71940287-71940337	HCF	heart:	n/a
22	chr9:71940287-71940337	GM12891	blood:	n/a
23	chr9:71940287-71940337	HAEpiC	amniotic membrane:	n/a
24	chr9:71940287-71940337	U87	brain:	n/a
25	chr9:71940287-71940337	HepG2	liver:	n/a
26	chr9:71940287-71940337	HRCEpiC	kidney:	n/a
27	chr9:71940287-71940337	AG04450	lung:	fetal
28	chr9:71940287-71940337	H1-hESC	embryonic stem cell:	embryo
29	chr9:71940287-71940337	HMEC	breast:	n/a
30	chr9:71940287-71940337	GM06990	blood:	n/a
31	chr9:71940287-71940337	CMK	blood:	n/a
32	chr9:71940287-71940337	NT2-D1	testis:	n/a
33	chr9:71940287-71940337	SK-N-SH	brain:	n/a
34	chr9:71940287-71940337	AG09319	gingival:	n/a
35	chr9:71940287-71940337	BJ	skin:	n/a
36	chr9:71940287-71940337	PFSK-1	brain:	n/a
37	chr9:71940287-71940337	Hela-S3	cervix:	n/a
38	chr9:71940287-71940337	AoSMC	blood vessel:	n/a
39	chr9:71940287-71940337	Hepatocyte	liver:	n/a
40	chr9:71940287-71940337	LNCaP	prostate:	n/a
41	chr9:71940287-71940337	A549	lung:	n/a
42	chr9:71940287-71940337	HNPCEpiC	eye:	n/a
43	chr9:71940287-71940337	HL-60	blood:	n/a
44	chr9:71940287-71940337	K562	blood:	n/a
45	chr9:71940287-71940337	HCT-116	colon:	n/a
46	chr9:71940287-71940337	GM12878	blood:	n/a
47	chr9:71940287-71940337	ovcar-3	ovarian:	n/a
48	chr9:71940287-71940337	IMR90	lung:	fetal
49	chr9:71940287-71940337	SK-N-MC	brain:	n/a
50	chr9:71940287-71940337	AG04449	skin:	fetal

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:57696897..57697889-chr9:71940008..71940591,2	MCF-7	breast:
2	chr9:71939667..71941572-chr9:71995013..71999921,5	MCF-7	breast:
3	chr9:71810860..71813115-chr9:71939521..71941834,2	MCF-7	breast:
4	chr9:71937269..71941011-chr9:72000572..72004392,4	MCF-7	breast:
5	chr9:71939857..71941604-chr9:71989524..71992457,2	MCF-7	breast:
6	chr9:71938510..71941284-chr9:71942079..71947019,4	MCF-7	breast:
7	chr9:71939962..71941547-chr9:71947725..71950010,2	MCF-7	breast:
8	chr9:71940098..71942516-chr9:71992469..71994657,3	MCF-7	breast:

No data

Variant related genes	Relation type
FAM189A2	TF binding region
FAM189A2	CpG island
ENSG00000135063	Chromatin interaction
ENSG00000141367	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1035477	chr9:71511927-71959487	Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv831610	chr9:71846941-72016835	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv893428	chr9:71926658-72027641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3374800	chr9:71939157-71942005	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3417138	chr9:71939382-71941480	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71937600-71942800	Active TSS	Fetal Heart	heart
2	chr9:71938800-71940800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr9:71938800-71940800	Active TSS	Brain Substantia Nigra	brain
4	chr9:71938800-71941400	Active TSS	Brain Anterior Caudate	brain
5	chr9:71938800-71942800	Active TSS	Right Atrium	heart
6	chr9:71939000-71940600	Bivalent/Poised TSS	Fetal Lung	lung
7	chr9:71939000-71940800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr9:71939000-71941000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr9:71939000-71941000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr9:71939000-71941200	Active TSS	Ovary	ovary
11	chr9:71939000-71941400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr9:71939000-71942800	Active TSS	Stomach Smooth Muscle	stomach
13	chr9:71939200-71940600	Active TSS	Brain Hippocampus Middle	brain
14	chr9:71939200-71940600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr9:71939200-71940800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr9:71939200-71940800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:71939200-71941000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr9:71939200-71941200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr9:71939200-71941400	Active TSS	Left Ventricle	heart
20	chr9:71939200-71944000	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr9:71939400-71940800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:71939400-71940800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
23	chr9:71939400-71940800	Active TSS	Aorta	Aorta
24	chr9:71939400-71940800	Bivalent/Poised TSS	Fetal Kidney	kidney
25	chr9:71939400-71940800	Bivalent/Poised TSS	Thymus	Thymus
26	chr9:71939400-71940800	Bivalent/Poised TSS	A549	lung
27	chr9:71939400-71941000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr9:71939400-71941000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr9:71939400-71941000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr9:71939400-71941000	Bivalent/Poised TSS	Fetal Brain Female	brain
31	chr9:71939400-71941000	Active TSS	Hela-S3	cervix
32	chr9:71939400-71941200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:71939400-71941200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:71939400-71941200	Active TSS	Esophagus	oesophagus
35	chr9:71939400-71941200	Active TSS	Lung	lung
36	chr9:71939400-71941400	Active TSS	Colon Smooth Muscle	Colon
37	chr9:71939400-71941400	Active TSS	Psoas Muscle	Psoas
38	chr9:71939400-71941600	Active TSS	Gastric	stomach
39	chr9:71939400-71942200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr9:71939600-71940400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:71939600-71940600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:71939600-71940800	Bivalent/Poised TSS	Colonic Mucosa	Colon
43	chr9:71939600-71940800	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr9:71939600-71940800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
45	chr9:71939600-71941000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
46	chr9:71939600-71941000	Active TSS	Pancreas	Pancrea
47	chr9:71939600-71941400	Active TSS	Brain Angular Gyrus	brain
48	chr9:71939600-71942000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr9:71939800-71940600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr9:71939800-71940600	Active TSS	Rectal Mucosa Donor 31	rectum

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