Variant report

Variant	rs72847785
Chromosome Location	chr17:66511299-66511300
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	POLR2A	chr17:66510996-66511417	GM12878	blood:	n/a	n/a
2	FOS	chr17:66510777-66511302	MCF10A-Er-Src	breast:	n/a	n/a
3	CREB1	chr17:66510986-66511330	GM12878	blood:	n/a	n/a
4	CHD1	chr17:66507161-66511463	IMR90	lung:	n/a	n/a
5	POLR2A	chr17:66510709-66511713	GM12878	blood:	n/a	n/a
6	POLR2A	chr17:66510825-66511631	MCF10A-Er-Src	breast:	n/a	n/a
7	MAFF	chr17:66510997-66511546	HepG2	liver:	n/a	n/a
8	FOS	chr17:66510990-66511392	HUVEC	blood vessel:	n/a	n/a
9	FOS	chr17:66510955-66511309	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr17:66510826-66511711	HepG2	liver:	n/a	n/a
11	BHLHE40	chr17:66511016-66511333	GM12878	blood:	n/a	n/a
12	POLR2A	chr17:66506962-66511766	IMR90	lung:	n/a	n/a
13	EP300	chr17:66511085-66511316	GM12878	blood:	n/a	n/a
14	CHD2	chr17:66510871-66511320	GM12878	blood:	n/a	n/a
15	FOXP2	chr17:66510996-66511320	PFSK-1	brain:	n/a	n/a
16	STAT3	chr17:66511025-66511325	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr17:66510848-66511736	GM12878	blood:	n/a	n/a
18	MAFK	chr17:66510959-66511537	HepG2	liver:	n/a	chr17:66511100-66511116 chr17:66511101-66511112 chr17:66511099-66511113 chr17:66511392-66511407 chr17:66511100-66511111 chr17:66511100-66511115 chr17:66511100-66511111
19	POLR2A	chr17:66510961-66511453	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr17:66511057-66511327	HUVEC	blood vessel:	n/a	n/a
21	WRNIP1	chr17:66511046-66511612	GM12878	blood:	n/a	n/a
22	EBF1	chr17:66510838-66511750	GM12878	blood:	n/a	chr17:66511054-66511067 chr17:66511056-66511065
23	ARID3A	chr17:66510992-66511300	HepG2	liver:	n/a	n/a
24	POLR2A	chr17:66510970-66511393	HepG2	liver:	n/a	n/a
25	CHD1	chr17:66511160-66511586	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:66451996..66456192-chr17:66506725..66511948,5	MCF-7	breast:
2	chr17:66509822..66512031-chr17:66520719..66523833,3	K562	blood:
3	chr17:66509250..66511874-chr17:66538190..66540879,2	MCF-7	breast:

Variant related genes	Relation type
PRKAR1A	TF binding region
ENSG00000108946	Chromatin interaction
ENSG00000070540	Chromatin interaction
ENSG00000269657	Chromatin interaction
ENSG00000108950	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10468444	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10491176	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16972996	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973034	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2015212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2302235	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3785905	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55736761	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56112060	0.82[ASN][1000 genomes]
rs7221724	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847781	0.85[ASN][1000 genomes]
rs72847782	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72847784	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72847787	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72847789	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847790	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72847794	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847801	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74000753	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8067357	0.82[ASN][1000 genomes]
rs8072598	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8082254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66507200-66511400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr17:66507400-66511400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr17:66507400-66513600	Active TSS	Right Ventricle	heart
4	chr17:66507600-66511400	Active TSS	Aorta	Aorta
5	chr17:66507600-66511600	Active TSS	Ovary	ovary
6	chr17:66507800-66511400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr17:66507800-66511400	Active TSS	Fetal Heart	heart
8	chr17:66507800-66511800	Active TSS	Stomach Smooth Muscle	stomach
9	chr17:66508000-66511800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:66508800-66511800	Active TSS	Right Atrium	heart
11	chr17:66509400-66511600	Flanking Active TSS	Rectal Smooth Muscle	rectum
12	chr17:66509600-66511400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:66509600-66513000	Weak transcription	Spleen	Spleen
14	chr17:66509600-66513400	Weak transcription	Gastric	stomach
15	chr17:66509600-66513600	Weak transcription	Esophagus	oesophagus
16	chr17:66509600-66525800	Weak transcription	Pancreas	Pancrea
17	chr17:66509800-66511400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr17:66509800-66511400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:66509800-66511600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr17:66509800-66511800	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr17:66509800-66511800	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr17:66509800-66514200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr17:66510000-66511400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr17:66510000-66511600	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr17:66510000-66511600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr17:66510000-66511800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr17:66510000-66513400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr17:66510200-66511400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr17:66510200-66511400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr17:66510200-66511600	Genic enhancers	Primary B cells from peripheral blood	blood
31	chr17:66510200-66511600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr17:66510200-66512800	Weak transcription	Colonic Mucosa	Colon
33	chr17:66510200-66513400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr17:66510400-66511400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr17:66510400-66511400	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr17:66510400-66511400	Flanking Active TSS	HepG2	liver
37	chr17:66510400-66511400	Flanking Active TSS	Osteobl	bone
38	chr17:66510400-66511600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr17:66510400-66511600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr17:66510400-66511800	Enhancers	Fetal Brain Male	brain
41	chr17:66510400-66511800	Flanking Active TSS	HUVEC	blood vessel
42	chr17:66510600-66511400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr17:66510600-66511400	Flanking Active TSS	NHEK	skin
44	chr17:66510600-66511600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr17:66510600-66511600	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr17:66510600-66511600	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr17:66510600-66511600	Flanking Active TSS	NH-A	brain
48	chr17:66510800-66511400	Enhancers	Brain Germinal Matrix	brain
49	chr17:66510800-66511400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr17:66510800-66511600	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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