Variant report

Variant	rs72550859
Chromosome Location	chr16:31200202-31200203
allele	G/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	chr16:31195959-31204084	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr16:31198196-31202950	Hela-S3	cervix:	n/a	n/a
3	BCL3	chr16:31199277-31200217	K562	blood:	n/a	chr16:31199763-31199772
4	POLR2A	chr16:31196099-31214010	K562	blood:	n/a	n/a
5	POLR2A	chr16:31196354-31214629	GM12891	blood:	n/a	n/a
6	POLR2A	chr16:31196046-31214408	GM12892	blood:	n/a	n/a
7	POLR2A	chr16:31196323-31214177	GM12892	blood:	n/a	n/a
8	POLR2A	chr16:31196746-31214240	GM12891	blood:	n/a	n/a
9	POLR2A	chr16:31196474-31211565	HepG2	liver:	n/a	n/a
10	POLR2A	chr16:31199106-31200327	HL-60	blood:	n/a	n/a
11	POLR2A	chr16:31197288-31214611	GM12891	blood:	n/a	n/a
12	POLR2A	chr16:31196812-31206781	K562	blood:	n/a	n/a
13	POLR2A	chr16:31199733-31200626	U87	brain:	n/a	n/a
14	POLR2A	chr16:31199777-31200750	HepG2	liver:	n/a	n/a
15	POLR2A	chr16:31199729-31200667	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr16:31196345-31214090	GM12892	blood:	n/a	n/a
17	POLR2A	chr16:31196418-31206879	K562	blood:	n/a	n/a
18	POLR2A	chr16:31196170-31216645	HepG2	liver:	n/a	n/a
19	POLR2A	chr16:31197343-31200736	K562	blood:	n/a	n/a
20	RCOR1	chr16:31199880-31200218	HepG2	liver:	n/a	n/a
21	BCL3	chr16:31199686-31202004	K562	blood:	n/a	chr16:31199763-31199772 chr16:31200745-31200752
22	POLR2A	chr16:31196205-31214694	GM12891	blood:	n/a	n/a
23	POLR2A	chr16:31199803-31200213	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr16:31199564-31200234	PANC-1	pancreas:	n/a	n/a
25	POLR2A	chr16:31195988-31211763	HepG2	liver:	n/a	n/a
26	POLR2A	chr16:31190296-31214398	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr16:31198103-31200705	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr16:31196260-31200741	GM12878	blood:	n/a	n/a
29	POLR2A	chr16:31199752-31204060	U87	brain:	n/a	n/a
30	POLR2A	chr16:31190139-31214678	GM12878	blood:	n/a	n/a
31	POLR2A	chr16:31199096-31200782	PFSK-1	brain:	n/a	n/a
32	POLR2A	chr16:31199051-31200228	K562	blood:	n/a	n/a
33	POLR2A	chr16:31196065-31203826	GM12878	blood:	n/a	n/a
34	POLR2A	chr16:31199242-31200729	GM18505	blood:	n/a	n/a
35	HEY1	chr16:31195960-31200674	K562	blood:	n/a	chr16:31196925-31196934
36	POLR2A	chr16:31200109-31200344	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr16:31197449-31200248	MCF-7	breast:	n/a	n/a
38	STAT5A	chr16:31199835-31200547	GM12878	blood:	n/a	chr16:31199843-31199857
39	POLR2A	chr16:31199824-31200225	GM12878	blood:	n/a	n/a
40	POLR2A	chr16:31196433-31205934	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr16:31196681-31200717	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr16:31196461-31211058	K562	blood:	n/a	n/a
43	POLR2A	chr16:31196271-31210577	K562	blood:	n/a	n/a
44	POLR2A	chr16:31199798-31200884	U87	brain:	n/a	n/a
45	POLR2A	chr16:31196143-31216629	A549	lung:	n/a	n/a
46	POLR2A	chr16:31195969-31215569	GM12878	blood:	n/a	n/a
47	POLR2A	chr16:31199177-31200650	Hela-S3	cervix:	n/a	n/a
48	POU2F2	chr16:31199753-31200685	GM12878	blood:	n/a	chr16:31200411-31200429 chr16:31200416-31200423 chr16:31200414-31200424 chr16:31200412-31200427 chr16:31200413-31200425 chr16:31200415-31200424 chr16:31200415-31200426
49	POLR2A	chr16:31198207-31200685	K562	blood:	n/a	n/a
50	POLR2A	chr16:31196034-31207331	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:31141772..31145245-chr16:31195885..31201101,4	MCF-7	breast:
2	chr16:31199383..31201639-chr16:31463370..31465464,2	K562	blood:
3	chr16:31151687..31162079-chr16:31189046..31201898,43	K562	blood:
4	chr16:31198655..31200900-chr17:56735001..56737984,2	K562	blood:
5	chr16:31042749..31045217-chr16:31199190..31201398,2	K562	blood:
6	chr16:31198823..31201315-chr16:31470098..31472818,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM72-2	chr16:31199788-31200547	NONHSAT141885

Variant related genes	Relation type
FUS	TF binding region
ENSG00000261474	Chromatin interaction
ENSG00000261385	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000103496	Chromatin interaction
ENSG00000260267	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2230425	1.00[AMR][1000 genomes]
rs41408845	1.00[AMR][1000 genomes]
rs41476945	1.00[AMR][1000 genomes]
rs41507448	1.00[AMR][1000 genomes]
rs41508646	1.00[AMR][1000 genomes]
rs41514252	1.00[AMR][1000 genomes]
rs72550884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv978315	chr16:31198121-31203785	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	21 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	chr16:31194400-31201200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr16:31194400-31201800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr16:31194400-31202600	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr16:31194400-31208200	Strong transcription	HSMMtube	muscle
8	chr16:31194400-31208400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
9	chr16:31194400-31211000	Strong transcription	Fetal Intestine Large	intestine
10	chr16:31194600-31207000	Strong transcription	Aorta	Aorta
11	chr16:31194600-31207800	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr16:31194600-31208400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr16:31194600-31208800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr16:31194600-31209000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr16:31194800-31208000	Strong transcription	Brain Angular Gyrus	brain
16	chr16:31195000-31208000	Strong transcription	Esophagus	oesophagus
17	chr16:31195000-31208200	Strong transcription	NHEK	skin
18	chr16:31195000-31208400	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr16:31195000-31208800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr16:31195000-31208800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr16:31195000-31208800	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr16:31195000-31211000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:31195000-31211000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr16:31195200-31206400	Strong transcription	Pancreatic Islets	Pancreatic Islet
25	chr16:31195200-31208000	Strong transcription	Fetal Kidney	kidney
26	chr16:31195200-31208400	Strong transcription	Fetal Lung	lung
27	chr16:31195400-31201400	Strong transcription	Spleen	Spleen
28	chr16:31195400-31202600	Strong transcription	Psoas Muscle	Psoas
29	chr16:31195400-31207400	Strong transcription	Colon Smooth Muscle	Colon
30	chr16:31195400-31208000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
31	chr16:31195400-31208000	Strong transcription	HUVEC	blood vessel
32	chr16:31195400-31208400	Strong transcription	Right Ventricle	heart
33	chr16:31195400-31208400	Strong transcription	HMEC	breast
34	chr16:31195400-31208600	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr16:31195400-31208800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr16:31195400-31209000	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr16:31195400-31209200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr16:31195400-31210200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr16:31195400-31211200	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr16:31195400-31211400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:31195400-31211600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr16:31195400-31211600	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr16:31195400-31212400	Strong transcription	Fetal Stomach	stomach
44	chr16:31195400-31213000	Weak transcription	Right Atrium	heart
45	chr16:31195600-31208000	Strong transcription	Brain Hippocampus Middle	brain
46	chr16:31195600-31208000	Strong transcription	Left Ventricle	heart
47	chr16:31195600-31208000	Strong transcription	Rectal Smooth Muscle	rectum
48	chr16:31195600-31208000	Strong transcription	K562	blood
49	chr16:31195600-31208200	Strong transcription	Brain Anterior Caudate	brain
50	chr16:31195600-31208400	Strong transcription	Brain Substantia Nigra	brain

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