Variant report

Variant	rs73532211
Chromosome Location	chr16:31208236-31208237
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 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	POU2F2	chr16:31207550-31208444	GM12891	blood:	n/a	n/a
3	POLR2A	chr16:31196099-31214010	K562	blood:	n/a	n/a
4	POLR2A	chr16:31208146-31208238	A549	lung:	n/a	n/a
5	POLR2A	chr16:31207436-31211574	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr16:31196354-31214629	GM12891	blood:	n/a	n/a
7	POU2F2	chr16:31207480-31208441	GM12878	blood:	n/a	n/a
8	POLR2A	chr16:31207544-31209480	K562	blood:	n/a	n/a
9	POLR2A	chr16:31196046-31214408	GM12892	blood:	n/a	n/a
10	POLR2A	chr16:31208100-31208506	K562	blood:	n/a	n/a
11	POLR2A	chr16:31196323-31214177	GM12892	blood:	n/a	n/a
12	POLR2A	chr16:31207593-31208283	GM19193	blood:	n/a	n/a
13	POLR2A	chr16:31196746-31214240	GM12891	blood:	n/a	n/a
14	MTA3	chr16:31208186-31211539	GM12878	blood:	n/a	n/a
15	POLR2A	chr16:31203206-31211716	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr16:31208195-31208465	ECC-1	luminal epithelium:	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	chr16:31197288-31214611	GM12891	blood:	n/a	n/a
20	POLR2A	chr16:31207299-31208479	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr16:31207313-31211461	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr16:31206036-31208465	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr16:31206894-31208526	K562	blood:	n/a	n/a
24	POLR2A	chr16:31207196-31208243	GM12878	blood:	n/a	n/a
25	POLR2A	chr16:31200960-31211583	GM12878	blood:	n/a	n/a
26	POLR2A	chr16:31207607-31208239	A549	lung:	n/a	n/a
27	POLR2A	chr16:31207380-31208459	K562	blood:	n/a	n/a
28	HEY1	chr16:31208112-31208408	HepG2	liver:	n/a	n/a
29	POLR2A	chr16:31196345-31214090	GM12892	blood:	n/a	n/a
30	POLR2A	chr16:31196170-31216645	HepG2	liver:	n/a	n/a
31	POLR2A	chr16:31207537-31208267	GM12878	blood:	n/a	n/a
32	POLR2A	chr16:31208135-31208506	HL-60	blood:	n/a	n/a
33	POLR2A	chr16:31196205-31214694	GM12891	blood:	n/a	n/a
34	POLR2A	chr16:31206953-31208470	GM12891	blood:	n/a	n/a
35	POLR2A	chr16:31207179-31209870	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr16:31208118-31211674	HL-60	blood:	n/a	n/a
37	POLR2A	chr16:31195988-31211763	HepG2	liver:	n/a	n/a
38	POLR2A	chr16:31190296-31214398	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr16:31190139-31214678	GM12878	blood:	n/a	n/a
40	POLR2A	chr16:31208109-31208470	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr16:31202402-31211470	K562	blood:	n/a	n/a
42	NFATC1	chr16:31207379-31211687	GM12878	blood:	n/a	n/a
43	POLR2A	chr16:31207407-31210479	K562	blood:	n/a	n/a
44	POLR2A	chr16:31208109-31208264	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr16:31207169-31208823	GM12878	blood:	n/a	n/a
46	POLR2A	chr16:31207311-31208497	HepG2	liver:	n/a	n/a
47	POLR2A	chr16:31207372-31211151	H1-hESC	embryonic stem cell:	n/a	n/a
48	PML	chr16:31207248-31208501	GM12878	blood:	n/a	n/a
49	POLR2A	chr16:31196461-31211058	K562	blood:	n/a	n/a
50	POLR2A	chr16:31207374-31211443	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:30958903..30961424-chr16:31206052..31208259,2	MCF-7	breast:
2	chr16:30968533..30970596-chr16:31206944..31209887,2	K562	blood:
3	chr16:31083551..31085436-chr16:31207964..31210898,2	K562	blood:
4	chr16:31207553..31209957-chr16:31462352..31464539,2	MCF-7	breast:
5	chr16:30984283..30986208-chr16:31207828..31210743,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FUS-1	chr16:31207452-31208284	ENSG00000260060.1

No data

Variant related genes	Relation type
C16orf98	TF binding region
ENSG00000261487	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000167394	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10782003	1.00[EUR][1000 genomes]
rs16956408	1.00[EUR][1000 genomes]
rs17839571	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17839573	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55643523	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55651936	1.00[EUR][1000 genomes]
rs55995755	1.00[EUR][1000 genomes]
rs56068718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58076927	1.00[EUR][1000 genomes]
rs58865641	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59064674	1.00[EUR][1000 genomes]
rs60375074	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60976516	0.89[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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61733962	0.83[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	0.88[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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530269	0.83[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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530298	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532214	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532217	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	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73532246	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73532249	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73532254	0.83[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	chr16:31194400-31208400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
2	chr16:31194400-31211000	Strong transcription	Fetal Intestine Large	intestine
3	chr16:31194600-31208400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr16:31194600-31208800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr16:31194600-31209000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:31195000-31208400	Strong transcription	H9 Cell Line	embryonic stem cell
7	chr16:31195000-31208800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr16:31195000-31208800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr16:31195000-31208800	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr16:31195000-31211000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr16:31195000-31211000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr16:31195200-31208400	Strong transcription	Fetal Lung	lung
13	chr16:31195400-31208400	Strong transcription	Right Ventricle	heart
14	chr16:31195400-31208400	Strong transcription	HMEC	breast
15	chr16:31195400-31208600	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr16:31195400-31208800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr16:31195400-31209000	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr16:31195400-31209200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:31195400-31210200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:31195400-31211200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr16:31195400-31211400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:31195400-31211600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr16:31195400-31211600	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr16:31195400-31212400	Strong transcription	Fetal Stomach	stomach
25	chr16:31195400-31213000	Weak transcription	Right Atrium	heart
26	chr16:31195600-31208400	Strong transcription	Brain Substantia Nigra	brain
27	chr16:31195600-31208600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:31195600-31208800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr16:31195600-31208800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr16:31195600-31209400	Strong transcription	Lung	lung
31	chr16:31195600-31210600	Strong transcription	A549	lung
32	chr16:31195600-31210600	Strong transcription	NH-A	brain
33	chr16:31195600-31210800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr16:31195600-31211200	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr16:31195600-31211200	Strong transcription	Fetal Intestine Small	intestine
36	chr16:31195600-31211800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr16:31195600-31211800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr16:31195600-31212400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr16:31195600-31212400	Strong transcription	Fetal Brain Female	brain
40	chr16:31195800-31208400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:31195800-31212600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr16:31196600-31209600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr16:31196600-31210000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr16:31196600-31211400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr16:31197000-31211000	Strong transcription	Osteobl	bone
46	chr16:31197200-31208400	Strong transcription	Liver	Liver
47	chr16:31197200-31208400	Strong transcription	Placenta	Placenta
48	chr16:31197200-31209800	Strong transcription	Adipose Nuclei	Adipose
49	chr16:31197200-31211600	Strong transcription	NHDF-Ad	bronchial
50	chr16:31197200-31212600	Strong transcription	Fetal Muscle Leg	muscle

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