Variant report

Variant	rs374614664
Chromosome Location	chr16:31199094-31199095
allele	-/AAA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

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	chr16:31198915-31199146	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr16:31198196-31202950	Hela-S3	cervix:	n/a	n/a
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	chr16:31197288-31214611	GM12891	blood:	n/a	n/a
11	NFATC1	chr16:31199001-31199468	GM12878	blood:	n/a	n/a
12	POLR2A	chr16:31196812-31206781	K562	blood:	n/a	n/a
13	BCL3	chr16:31197646-31199600	K562	blood:	n/a	n/a
14	POLR2A	chr16:31196345-31214090	GM12892	blood:	n/a	n/a
15	POLR2A	chr16:31196418-31206879	K562	blood:	n/a	n/a
16	POLR2A	chr16:31196170-31216645	HepG2	liver:	n/a	n/a
17	POLR2A	chr16:31197343-31200736	K562	blood:	n/a	n/a
18	BCLAF1	chr16:31198223-31199201	K562	blood:	n/a	n/a
19	POLR2A	chr16:31196205-31214694	GM12891	blood:	n/a	n/a
20	POLR2A	chr16:31198282-31199100	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr16:31195988-31211763	HepG2	liver:	n/a	n/a
22	POLR2A	chr16:31190296-31214398	PANC-1	pancreas:	n/a	n/a
23	POU2F2	chr16:31199016-31199571	GM12878	blood:	n/a	chr16:31199123-31199135
24	POLR2A	chr16:31198103-31200705	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr16:31196260-31200741	GM12878	blood:	n/a	n/a
26	POLR2A	chr16:31190139-31214678	GM12878	blood:	n/a	n/a
27	TAF7	chr16:31198674-31199429	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr16:31199051-31200228	K562	blood:	n/a	n/a
29	POLR2A	chr16:31196065-31203826	GM12878	blood:	n/a	n/a
30	HEY1	chr16:31195960-31200674	K562	blood:	n/a	chr16:31196925-31196934
31	POLR2A	chr16:31198485-31199568	U87	brain:	n/a	n/a
32	STAT5A	chr16:31198611-31199594	GM12878	blood:	n/a	chr16:31199133-31199153 chr16:31199136-31199150
33	POLR2A	chr16:31197449-31200248	MCF-7	breast:	n/a	n/a
34	NRF1	chr16:31198463-31199309	H1-hESC	embryonic stem cell:	n/a	n/a
35	ZMIZ1	chr16:31198404-31200029	K562	blood:	n/a	n/a
36	POLR2A	chr16:31196433-31205934	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr16:31196681-31200717	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAFK	chr16:31199078-31199169	K562	blood:	n/a	n/a
39	POLR2A	chr16:31196461-31211058	K562	blood:	n/a	n/a
40	POLR2A	chr16:31196271-31210577	K562	blood:	n/a	n/a
41	POLR2A	chr16:31196143-31216629	A549	lung:	n/a	n/a
42	POLR2A	chr16:31195969-31215569	GM12878	blood:	n/a	n/a
43	POLR2A	chr16:31198207-31200685	K562	blood:	n/a	n/a
44	POLR2A	chr16:31197426-31199293	PANC-1	pancreas:	n/a	n/a
45	POLR2A	chr16:31196034-31207331	K562	blood:	n/a	n/a
46	POLR2A	chr16:31198317-31199402	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr16:31197314-31214097	SK-N-MC	brain:	n/a	n/a
48	POLR2A	chr16:31199082-31200755	GM12891	blood:	n/a	n/a
49	POLR2A	chr16:31198207-31199562	U87	brain:	n/a	n/a
50	HEY1	chr16:31196422-31200740	HepG2	liver:	n/a	chr16:31196925-31196934

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31141772..31145245-chr16:31195885..31201101,4	MCF-7	breast:
2	chr16:31135542..31139152-chr16:31197024..31199898,3	K562	blood:
3	chr16:31151687..31162079-chr16:31189046..31201898,43	K562	blood:
4	chr16:31117742..31119780-chr16:31197007..31199693,2	MCF-7	breast:
5	chr16:31084050..31087268-chr16:31196940..31199413,3	K562	blood:
6	chr16:30996900..30998531-chr16:31196842..31199686,2	K562	blood:
7	chr16:31085251..31088144-chr16:31197291..31199789,2	MCF-7	breast:
8	chr16:31198655..31200900-chr17:56735001..56737984,2	K562	blood:
9	chr16:31198823..31201315-chr16:31470098..31472818,2	K562	blood:
10	chr16:30959999..30961967-chr16:31197956..31199862,2	K562	blood:
11	chr16:31085155..31087268-chr16:31196940..31199413,2	K562	blood:

No data

Variant related genes	Relation type
FUS	TF binding region
ENSG00000260304	TF binding region
ENSG00000260267	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000261385	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000103507	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	chr16:31193200-31200000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr16:31194200-31200000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr16:31194200-31205800	Strong transcription	Small Intestine	intestine
4	chr16:31194200-31208000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:31194200-31208200	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr16:31194400-31199800	Genic enhancers	Thymus	Thymus
7	chr16:31194400-31200200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
8	chr16:31194400-31201200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr16:31194400-31201800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr16:31194400-31202600	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr16:31194400-31208200	Strong transcription	HSMMtube	muscle
12	chr16:31194400-31208400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
13	chr16:31194400-31211000	Strong transcription	Fetal Intestine Large	intestine
14	chr16:31194600-31207000	Strong transcription	Aorta	Aorta
15	chr16:31194600-31207800	Strong transcription	Placenta Amnion	Placenta Amnion
16	chr16:31194600-31208400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr16:31194600-31208800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr16:31194600-31209000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr16:31194800-31208000	Strong transcription	Brain Angular Gyrus	brain
20	chr16:31195000-31208000	Strong transcription	Esophagus	oesophagus
21	chr16:31195000-31208200	Strong transcription	NHEK	skin
22	chr16:31195000-31208400	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr16:31195000-31208800	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr16:31195000-31208800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr16:31195000-31208800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr16:31195000-31211000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr16:31195000-31211000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr16:31195200-31199400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr16:31195200-31206400	Strong transcription	Pancreatic Islets	Pancreatic Islet
30	chr16:31195200-31208000	Strong transcription	Fetal Kidney	kidney
31	chr16:31195200-31208400	Strong transcription	Fetal Lung	lung
32	chr16:31195400-31200200	Strong transcription	Gastric	stomach
33	chr16:31195400-31201400	Strong transcription	Spleen	Spleen
34	chr16:31195400-31202600	Strong transcription	Psoas Muscle	Psoas
35	chr16:31195400-31207400	Strong transcription	Colon Smooth Muscle	Colon
36	chr16:31195400-31208000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
37	chr16:31195400-31208000	Strong transcription	HUVEC	blood vessel
38	chr16:31195400-31208400	Strong transcription	Right Ventricle	heart
39	chr16:31195400-31208400	Strong transcription	HMEC	breast
40	chr16:31195400-31208600	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr16:31195400-31208800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr16:31195400-31209000	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr16:31195400-31209200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr16:31195400-31210200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr16:31195400-31211200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr16:31195400-31211400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr16:31195400-31211600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr16:31195400-31211600	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr16:31195400-31212400	Strong transcription	Fetal Stomach	stomach
50	chr16:31195400-31213000	Weak transcription	Right Atrium	heart

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