Variant report

Variant	rs73505249
Chromosome Location	chr9:94184389-94184390
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	SIN3AK20	chr9:94184294-94184622	HepG2	liver:	n/a	n/a
2	POLR2A	chr9:94183727-94185628	HepG2	liver:	n/a	n/a
3	BRCA1	chr9:94184166-94185781	Hela-S3	cervix:	n/a	n/a
4	STAT3	chr9:94184368-94185796	MCF10A-Er-Src	breast:	n/a	chr9:94184890-94184899 chr9:94184891-94184900 chr9:94184885-94184905 chr9:94184888-94184902 chr9:94184889-94184900
5	STAT3	chr9:94184208-94185710	MCF10A-Er-Src	breast:	n/a	chr9:94184890-94184899 chr9:94184891-94184900 chr9:94184885-94184905 chr9:94184888-94184902 chr9:94184889-94184900
6	POLR2A	chr9:94183607-94185081	HepG2	liver:	n/a	n/a
7	CHD1	chr9:94178248-94188245	IMR90	lung:	n/a	n/a
8	POLR2A	chr9:94181164-94188721	IMR90	lung:	n/a	n/a
9	STAT3	chr9:94184308-94185733	MCF10A-Er-Src	breast:	n/a	chr9:94184890-94184899 chr9:94184891-94184900 chr9:94184885-94184905 chr9:94184888-94184902 chr9:94184889-94184900
10	POLR2A	chr9:94184175-94185803	HepG2	liver:	n/a	n/a
11	POLR2A	chr9:94184237-94184827	HCT-116	colon:	n/a	n/a
12	FOXA2	chr9:94184189-94184711	HepG2	liver:	n/a	n/a
13	POLR2A	chr9:94184220-94187523	H1-neurons	neurons:	n/a	n/a
14	MAX	chr9:94184350-94187633	A549	lung:	n/a	chr9:94184822-94184830 chr9:94187261-94187270 chr9:94187261-94187270 chr9:94187260-94187270 chr9:94187262-94187269 chr9:94186408-94186417 chr9:94186989-94186998 chr9:94187260-94187271
15	POLR2A	chr9:94183753-94188496	MCF10A-Er-Src	breast:	n/a	n/a
16	REST	chr9:94182988-94187390	H1-neurons	neurons:	n/a	chr9:94183094-94183103 chr9:94186781-94186791 chr9:94183614-94183627 chr9:94185645-94185663 chr9:94186785-94186798
17	MXI1	chr9:94184376-94187596	IMR90	lung:	n/a	n/a
18	STAT3	chr9:94184264-94185737	MCF10A-Er-Src	breast:	n/a	chr9:94184890-94184899 chr9:94184891-94184900 chr9:94184885-94184905 chr9:94184888-94184902 chr9:94184889-94184900
19	POLR2A	chr9:94181442-94187891	HepG2	liver:	n/a	n/a
20	MAFK	chr9:94184318-94185759	IMR90	lung:	n/a	n/a
21	MXI1	chr9:94183136-94187701	SK-N-SH	brain:	n/a	n/a
22	FOXA1	chr9:94184169-94184642	HepG2	liver:	n/a	n/a
23	POLR2A	chr9:94181466-94188158	MCF10A-Er-Src	breast:	n/a	n/a
24	FOXA1	chr9:94184251-94184733	HepG2	liver:	n/a	n/a
25	HEY1	chr9:94183163-94184772	HepG2	liver:	n/a	chr9:94183682-94183697 chr9:94183671-94183686 chr9:94183672-94183687 chr9:94183885-94183900
26	FOS	chr9:94184373-94185400	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:93715622..93718025-chr9:94184385..94185972,2	MCF-7	breast:
2	chr9:94120744..94125236-chr9:94184262..94187726,6	K562	blood:
3	chr9:94183995..94185934-chr9:94211756..94213508,2	MCF-7	breast:
4	chr9:94164043..94167657-chr9:94182944..94185733,4	K562	blood:
5	chr9:93957539..93960381-chr9:94183192..94185284,2	K562	blood:
6	chr9:93921068..93922852-chr9:94184016..94186488,2	MCF-7	breast:
7	chr9:93953851..93958747-chr9:94181568..94185373,5	K562	blood:

Variant related genes	Relation type
ENSG00000233081	TF binding region
ENSG00000235641	Chromatin interaction
ENSG00000148090	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs57412003	0.83[AFR][1000 genomes]
rs7026091	0.91[AFR][1000 genomes]

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	nsv893571	chr9:94072113-94202927	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv824980	chr9:94131502-94215911	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv466435	chr9:94165889-94225537	Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv614857	chr9:94165889-94225537	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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	nsv824981	chr9:94183327-94188878	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94181600-94186400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr9:94182400-94186600	Bivalent/Poised TSS	HepG2	liver
3	chr9:94182800-94184400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr9:94182800-94184400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr9:94182800-94184800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr9:94182800-94185800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
7	chr9:94182800-94186600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:94183000-94184400	Weak transcription	Spleen	Spleen
9	chr9:94183000-94184800	Active TSS	Fetal Brain Male	brain
10	chr9:94183000-94185000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:94183000-94185000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
12	chr9:94183000-94185200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:94183000-94185800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr9:94183000-94186400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:94183000-94186400	Active TSS	Brain Germinal Matrix	brain
16	chr9:94183000-94186600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:94183000-94187000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:94183000-94187000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:94183000-94187000	Active TSS	Fetal Intestine Large	intestine
20	chr9:94183000-94187200	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr9:94183000-94187200	Active TSS	Right Atrium	heart
22	chr9:94183000-94187400	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr9:94183000-94187400	Active TSS	Aorta	Aorta
24	chr9:94183000-94187600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr9:94183000-94187600	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr9:94183200-94184400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr9:94183200-94184400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr9:94183200-94184400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:94183200-94184400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr9:94183200-94184600	Active TSS	Rectal Smooth Muscle	rectum
31	chr9:94183200-94185200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr9:94183200-94185400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
33	chr9:94183200-94185400	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr9:94183200-94185800	Active TSS	Fetal Heart	heart
35	chr9:94183200-94186400	Active TSS	Fetal Stomach	stomach
36	chr9:94183200-94186800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:94183200-94186800	Active TSS	Fetal Intestine Small	intestine
38	chr9:94183200-94187000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:94183200-94187000	Active TSS	Pancreas	Pancrea
40	chr9:94183200-94187000	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr9:94183200-94187000	Active TSS	Stomach Mucosa	stomach
42	chr9:94183200-94187000	Active TSS	NHDF-Ad	bronchial
43	chr9:94183200-94187000	Active TSS	NHLF	lung
44	chr9:94183200-94187200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:94183200-94187200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:94183200-94187200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr9:94183200-94187200	Active TSS	Liver	Liver
48	chr9:94183200-94187200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr9:94183200-94187200	Active TSS	Brain Substantia Nigra	brain
50	chr9:94183200-94187200	Active TSS	Fetal Lung	lung

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