Variant report

Variant	rs9916501
Chromosome Location	chr17:63180163-63180164
allele	A/C
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	chr17:63179609-63180275	H1-hESC	embryonic stem cell:	n/a	n/a
2	HDAC2	chr17:63179891-63180226	H1-hESC	embryonic stem cell:	n/a	n/a
3	SP1	chr17:63179723-63180324	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr17:63179680-63180313	H1-hESC	embryonic stem cell:	n/a	n/a
5	RCOR1	chr17:63180039-63180248	Hela-S3	cervix:	n/a	n/a
6	GATA3	chr17:63180127-63180668	SH-SY5Y	brain:	n/a	chr17:63180208-63180219
7	SRF	chr17:63179733-63180236	H1-hESC	embryonic stem cell:	n/a	chr17:63180041-63180059 chr17:63180041-63180055 chr17:63180043-63180058 chr17:63180039-63180056 chr17:63180044-63180057 chr17:63180042-63180059
8	TEAD4	chr17:63179814-63180316	A549	lung:	n/a	n/a
9	SP1	chr17:63179766-63180333	A549	lung:	n/a	n/a
10	EP300	chr17:63179682-63182280	SK-N-SH	brain:	n/a	chr17:63180252-63180266 chr17:63180019-63180029
11	FOXA1	chr17:63179887-63180187	ECC-1	luminal epithelium:	n/a	n/a
12	GATA3	chr17:63179714-63180492	SK-N-SH	brain:	n/a	chr17:63180208-63180219
13	MAX	chr17:63179948-63180659	H1-hESC	embryonic stem cell:	n/a	chr17:63180530-63180545 chr17:63180533-63180544
14	SRF	chr17:63179792-63180399	ECC-1	luminal epithelium:	n/a	chr17:63180041-63180059 chr17:63180041-63180055 chr17:63180043-63180058 chr17:63180039-63180056 chr17:63180044-63180057 chr17:63180042-63180059
15	TCF12	chr17:63179719-63180633	SK-N-SH	brain:	n/a	chr17:63180232-63180240 chr17:63180020-63180029
16	FOXA2	chr17:63179699-63180234	A549	lung:	n/a	n/a
17	MAX	chr17:63179824-63180379	H1-hESC	embryonic stem cell:	n/a	n/a
18	TCF12	chr17:63179609-63180398	A549	lung:	n/a	chr17:63180232-63180240 chr17:63180020-63180029
19	SP1	chr17:63179754-63180327	A549	lung:	n/a	n/a
20	TEAD4	chr17:63179814-63180291	ECC-1	luminal epithelium:	n/a	n/a
21	USF1	chr17:63179908-63180230	A549	lung:	n/a	n/a
22	GTF2F1	chr17:63179918-63180298	H1-hESC	embryonic stem cell:	n/a	n/a
23	TAF1	chr17:63179659-63180284	H1-hESC	embryonic stem cell:	n/a	n/a
24	TEAD4	chr17:63179736-63180425	SK-N-SH	brain:	n/a	n/a
25	ATF2	chr17:63179809-63180246	H1-hESC	embryonic stem cell:	n/a	n/a
26	TEAD4	chr17:63179768-63180351	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAFK	chr17:63179957-63180387	H1-hESC	embryonic stem cell:	n/a	chr17:63180212-63180227
28	YY1	chr17:63179684-63180284	H1-hESC	embryonic stem cell:	n/a	n/a
29	TEAD4	chr17:63179762-63180373	A549	lung:	n/a	n/a
30	SP1	chr17:63179810-63180335	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr17:63179764-63180250	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr17:63179872-63180304	H1-hESC	embryonic stem cell:	n/a	n/a
33	TEAD4	chr17:63179780-63180381	ECC-1	luminal epithelium:	n/a	n/a
34	TAF7	chr17:63179661-63180216	H1-hESC	embryonic stem cell:	n/a	n/a
35	NFIC	chr17:63179749-63180511	SK-N-SH	brain:	n/a	n/a
36	FOS	chr17:63179983-63180307	HUVEC	blood vessel:	n/a	n/a
37	GATA3	chr17:63179644-63180414	A549	lung:	n/a	chr17:63180208-63180219
38	SRF	chr17:63179724-63180324	H1-hESC	embryonic stem cell:	n/a	chr17:63180041-63180059 chr17:63180041-63180055 chr17:63180043-63180058 chr17:63180039-63180056 chr17:63180044-63180057 chr17:63180042-63180059
39	TCF12	chr17:63179888-63180231	H1-hESC	embryonic stem cell:	n/a	chr17:63180020-63180029
40	EP300	chr17:63179760-63180359	H1-hESC	embryonic stem cell:	n/a	chr17:63180252-63180266 chr17:63180019-63180029
41	TEAD4	chr17:63179894-63180467	SK-N-SH	brain:	n/a	n/a
42	SP4	chr17:63179873-63180202	H1-hESC	embryonic stem cell:	n/a	n/a
43	ATF2	chr17:63179826-63180327	H1-hESC	embryonic stem cell:	n/a	n/a
44	FOXA1	chr17:63179806-63180228	T-47D	breast:	n/a	n/a
45	GATA3	chr17:63179874-63180279	T-47D	breast:	n/a	chr17:63180208-63180219
46	YY1	chr17:63179733-63180259	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr17:63179810-63180197	HUVEC	blood vessel:	n/a	n/a
48	TBP	chr17:63179760-63180329	H1-hESC	embryonic stem cell:	n/a	n/a
49	SRF	chr17:63179647-63180447	MCF-7	breast:	n/a	chr17:63180041-63180059 chr17:63180041-63180055 chr17:63180043-63180058 chr17:63180039-63180056 chr17:63180044-63180057 chr17:63180042-63180059
50	FOXA1	chr17:63179845-63180167	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:63173795..63175589-chr17:63177989..63180729,2	MCF-7	breast:

Variant related genes	Relation type
RGS9	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16960906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28377264	1.00[AMR][1000 genomes]
rs55665533	1.00[AMR][1000 genomes]
rs56219537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58535033	1.00[AMR][1000 genomes]
rs58981948	1.00[AMR][1000 genomes]
rs59428744	1.00[AMR][1000 genomes]
rs59447194	0.89[AMR][1000 genomes]
rs73347619	0.89[AMR][1000 genomes]
rs73347653	1.00[AMR][1000 genomes]
rs73347670	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73994744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9893450	1.00[AMR][1000 genomes]
rs9915881	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63160000-63180400	Weak transcription	Brain Substantia Nigra	brain
2	chr17:63169800-63190800	Weak transcription	Gastric	stomach
3	chr17:63170000-63180200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr17:63176000-63181000	Weak transcription	Fetal Kidney	kidney
5	chr17:63176200-63180400	Weak transcription	Brain Angular Gyrus	brain
6	chr17:63176200-63180400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr17:63176400-63223800	Weak transcription	Lung	lung
8	chr17:63176600-63180600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr17:63178000-63181600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr17:63178400-63180600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr17:63178400-63181200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr17:63178400-63181200	Enhancers	HUVEC	blood vessel
13	chr17:63178800-63181400	Weak transcription	K562	blood
14	chr17:63178800-63182000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr17:63178800-63182200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr17:63179000-63180800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr17:63179000-63181000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr17:63179000-63183000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr17:63179200-63180600	Weak transcription	Dnd41	blood
20	chr17:63179200-63182000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr17:63179400-63180800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr17:63179400-63182200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr17:63179400-63182600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr17:63179600-63180600	Enhancers	Placenta	Placenta
25	chr17:63179600-63181000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr17:63179600-63181200	Enhancers	Stomach Smooth Muscle	stomach
27	chr17:63179600-63181200	Enhancers	HSMM	muscle
28	chr17:63179600-63181400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr17:63179600-63181600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr17:63179600-63181600	Enhancers	HSMMtube	muscle
31	chr17:63179600-63182200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr17:63179600-63182200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:63179600-63182200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr17:63179600-63182200	Enhancers	Fetal Brain Male	brain
35	chr17:63179600-63183000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr17:63179800-63180200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr17:63179800-63180200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr17:63179800-63180200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr17:63179800-63180200	Enhancers	Aorta	Aorta
40	chr17:63179800-63180200	Enhancers	Fetal Muscle Leg	muscle
41	chr17:63179800-63180600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr17:63179800-63180600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr17:63179800-63180600	Enhancers	Brain Hippocampus Middle	brain
44	chr17:63179800-63180600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr17:63179800-63180600	Enhancers	Colon Smooth Muscle	Colon
46	chr17:63179800-63180600	Enhancers	HMEC	breast
47	chr17:63179800-63180600	Bivalent Enhancer	NHEK	skin
48	chr17:63179800-63180800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr17:63179800-63180800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr17:63179800-63180800	Enhancers	NH-A	brain

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