Variant report

Variant	rs17839571
Chromosome Location	chr16:31205553-31205554
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31205085-31214379	PANC-1	pancreas:	n/a	n/a
2	PML	chr16:31205123-31205977	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:31205225-31205562	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr16:31205467-31205739	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr16:31204682-31205583	GM19099	blood:	n/a	n/a
6	POLR2A	chr16:31200760-31206840	GM12891	blood:	n/a	n/a
7	POLR2A	chr16:31205152-31205594	HepG2	liver:	n/a	n/a
8	POLR2A	chr16:31196099-31214010	K562	blood:	n/a	n/a
9	POLR2A	chr16:31200824-31205933	K562	blood:	n/a	n/a
10	POLR2A	chr16:31196354-31214629	GM12891	blood:	n/a	n/a
11	POLR2A	chr16:31196046-31214408	GM12892	blood:	n/a	n/a
12	POLR2A	chr16:31204382-31206635	GM12878	blood:	n/a	n/a
13	POLR2A	chr16:31196323-31214177	GM12892	blood:	n/a	n/a
14	POLR2A	chr16:31196746-31214240	GM12891	blood:	n/a	n/a
15	POLR2A	chr16:31203206-31211716	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr16:31202998-31205944	K562	blood:	n/a	n/a
17	POLR2A	chr16:31196474-31211565	HepG2	liver:	n/a	n/a
18	POLR2A	chr16:31205097-31211681	U87	brain:	n/a	n/a
19	POLR2A	chr16:31205136-31205580	GM12878	blood:	n/a	n/a
20	POLR2A	chr16:31197288-31214611	GM12891	blood:	n/a	n/a
21	POLR2A	chr16:31205301-31205577	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr16:31196812-31206781	K562	blood:	n/a	n/a
23	POLR2A	chr16:31203244-31205927	HL-60	blood:	n/a	n/a
24	POLR2A	chr16:31200960-31211583	GM12878	blood:	n/a	n/a
25	POLR2A	chr16:31200835-31205914	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr16:31202310-31205886	MCF-7	breast:	n/a	n/a
27	POLR2A	chr16:31205162-31205852	HepG2	liver:	n/a	n/a
28	HEY1	chr16:31200824-31205952	K562	blood:	n/a	n/a
29	POLR2A	chr16:31205131-31205606	GM12878	blood:	n/a	n/a
30	POLR2A	chr16:31204345-31205678	K562	blood:	n/a	n/a
31	POLR2A	chr16:31196345-31214090	GM12892	blood:	n/a	n/a
32	POLR2A	chr16:31196418-31206879	K562	blood:	n/a	n/a
33	POLR2A	chr16:31196170-31216645	HepG2	liver:	n/a	n/a
34	POLR2A	chr16:31205468-31205577	GM12878	blood:	n/a	n/a
35	BCL3	chr16:31202102-31205638	K562	blood:	n/a	chr16:31204643-31204652
36	POLR2A	chr16:31204442-31206819	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr16:31196205-31214694	GM12891	blood:	n/a	n/a
38	NFATC1	chr16:31205150-31205737	GM12878	blood:	n/a	n/a
39	POLR2A	chr16:31195988-31211763	HepG2	liver:	n/a	n/a
40	POLR2A	chr16:31202910-31205956	Hela-S3	cervix:	n/a	n/a
41	POU2F2	chr16:31205182-31205554	GM12891	blood:	n/a	n/a
42	POLR2A	chr16:31190296-31214398	PANC-1	pancreas:	n/a	n/a
43	POLR2A	chr16:31201921-31206799	K562	blood:	n/a	n/a
44	POLR2A	chr16:31190139-31214678	GM12878	blood:	n/a	n/a
45	POLR2A	chr16:31202402-31211470	K562	blood:	n/a	n/a
46	POLR2A	chr16:31202881-31206847	HL-60	blood:	n/a	n/a
47	POLR2A	chr16:31204421-31206877	SK-N-SH	brain:	n/a	n/a
48	HEY1	chr16:31204455-31206834	HepG2	liver:	n/a	n/a
49	POLR2A	chr16:31205268-31205832	U87	brain:	n/a	n/a
50	POLR2A	chr16:31203901-31205602	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31203117..31206112-chr16:31465658..31467942,3	K562	blood:
2	chr16:31116825..31119866-chr16:31203052..31206563,4	K562	blood:
3	chr16:31084069..31085875-chr16:31204560..31207002,2	K562	blood:
4	chr16:31127717..31129231-chr16:31203742..31205961,2	K562	blood:
5	chr16:31204218..31206078-chr16:31258405..31260690,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260060	TF binding region
ENSG00000103507	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000103510	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10782003	1.00[EUR][1000 genomes]
rs16956408	1.00[EUR][1000 genomes]
rs17839573	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55643523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55651936	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55995755	1.00[EUR][1000 genomes]
rs56068718	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58076927	1.00[EUR][1000 genomes]
rs58585879	0.84[AFR][1000 genomes]
rs58865641	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59064674	1.00[EUR][1000 genomes]
rs60375074	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60976516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61086377	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61196325	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61733962	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68121698	1.00[EUR][1000 genomes]
rs7186737	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72550895	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530256	1.00[AMR][1000 genomes]
rs73530263	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530266	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530269	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530272	1.00[EUR][1000 genomes]
rs73530280	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530283	1.00[EUR][1000 genomes]
rs73530293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532211	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532214	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532217	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532228	1.00[EUR][1000 genomes]
rs73532236	1.00[EUR][1000 genomes]
rs73532241	1.00[EUR][1000 genomes]
rs73532245	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73532246	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73532249	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73532254	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74015090	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74015096	1.00[EUR][1000 genomes]
rs9708646	1.00[EUR][1000 genomes]
rs9927298	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
6	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
7	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
8	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31194200-31205800	Strong transcription	Small Intestine	intestine
2	chr16:31194200-31208000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:31194200-31208200	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr16:31194400-31208200	Strong transcription	HSMMtube	muscle
5	chr16:31194400-31208400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
6	chr16:31194400-31211000	Strong transcription	Fetal Intestine Large	intestine
7	chr16:31194600-31207000	Strong transcription	Aorta	Aorta
8	chr16:31194600-31207800	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr16:31194600-31208400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr16:31194600-31208800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:31194600-31209000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:31194800-31208000	Strong transcription	Brain Angular Gyrus	brain
13	chr16:31195000-31208000	Strong transcription	Esophagus	oesophagus
14	chr16:31195000-31208200	Strong transcription	NHEK	skin
15	chr16:31195000-31208400	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr16:31195000-31208800	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr16:31195000-31208800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr16:31195000-31208800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr16:31195000-31211000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr16:31195000-31211000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr16:31195200-31206400	Strong transcription	Pancreatic Islets	Pancreatic Islet
22	chr16:31195200-31208000	Strong transcription	Fetal Kidney	kidney
23	chr16:31195200-31208400	Strong transcription	Fetal Lung	lung
24	chr16:31195400-31207400	Strong transcription	Colon Smooth Muscle	Colon
25	chr16:31195400-31208000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr16:31195400-31208000	Strong transcription	HUVEC	blood vessel
27	chr16:31195400-31208400	Strong transcription	Right Ventricle	heart
28	chr16:31195400-31208400	Strong transcription	HMEC	breast
29	chr16:31195400-31208600	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr16:31195400-31208800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr16:31195400-31209000	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr16:31195400-31209200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr16:31195400-31210200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr16:31195400-31211200	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr16:31195400-31211400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:31195400-31211600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr16:31195400-31211600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr16:31195400-31212400	Strong transcription	Fetal Stomach	stomach
39	chr16:31195400-31213000	Weak transcription	Right Atrium	heart
40	chr16:31195600-31208000	Strong transcription	Brain Hippocampus Middle	brain
41	chr16:31195600-31208000	Strong transcription	Left Ventricle	heart
42	chr16:31195600-31208000	Strong transcription	Rectal Smooth Muscle	rectum
43	chr16:31195600-31208000	Strong transcription	K562	blood
44	chr16:31195600-31208200	Strong transcription	Brain Anterior Caudate	brain
45	chr16:31195600-31208400	Strong transcription	Brain Substantia Nigra	brain
46	chr16:31195600-31208600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr16:31195600-31208800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr16:31195600-31208800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr16:31195600-31209400	Strong transcription	Lung	lung
50	chr16:31195600-31210600	Strong transcription	A549	lung

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