Variant report

Variant	rs74086911
Chromosome Location	chr12:50015942-50015943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr12:50015737-50017503	GM12878	blood:	n/a	chr12:50016354-50016363 chr12:50016354-50016363
2	POLR2A	chr12:50015940-50017308	GM12891	blood:	n/a	n/a
3	POLR2A	chr12:50015914-50017521	GM12878	blood:	n/a	n/a
4	PML	chr12:50015910-50017336	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:50015940-50017522	GM12892	blood:	n/a	n/a
6	MTA3	chr12:50015913-50017480	GM12878	blood:	n/a	n/a
7	FOXM1	chr12:50015862-50017150	GM12878	blood:	n/a	n/a
8	NFIC	chr12:50015902-50017173	GM12878	blood:	n/a	n/a
9	RUNX3	chr12:50015874-50017158	GM12878	blood:	n/a	chr12:50016354-50016363 chr12:50016354-50016363
10	POLR2A	chr12:50015924-50017352	GM12892	blood:	n/a	n/a
11	SPI1	chr12:50015887-50016896	GM12878	blood:	n/a	chr12:50016400-50016413 chr12:50016401-50016414

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50015929-50015979	HCF	heart:	n/a
2	chr12:50015929-50015979	HCPEpiC	choroid plexus:	n/a
3	chr12:50015929-50015979	IMR90	lung:	fetal
4	chr12:50015929-50015979	HEEpiC	esophagus:	n/a
5	chr12:50015929-50015979	Hepatocyte	liver:	n/a
6	chr12:50015929-50015979	BE2_C	brain:	n/a
7	chr12:50015929-50015979	GM06990	blood:	n/a
8	chr12:50015929-50015979	NT2-D1	testis:	n/a
9	chr12:50015929-50015979	BJ	skin:	n/a
10	chr12:50015929-50015979	CMK	blood:	n/a
11	chr12:50015929-50015979	NB4	blood:	n/a
12	chr12:50015929-50015979	MCF-7	breast:	n/a
13	chr12:50015929-50015979	AoSMC	blood vessel:	n/a
14	chr12:50015929-50015979	GM12878	blood:	n/a
15	chr12:50015929-50015979	AG04450	lung:	fetal
16	chr12:50015929-50015979	PANC-1	pancreas:	n/a
17	chr12:50015929-50015979	Caco-2	colon:	n/a
18	chr12:50015929-50015979	T-47D	breast:	n/a
19	chr12:50015929-50015979	ovcar-3	ovarian:	n/a
20	chr12:50015929-50015979	SK-N-SH	brain:	n/a
21	chr12:50015929-50015979	A549	lung:	n/a
22	chr12:50015929-50015979	NH-A	brain:	n/a
23	chr12:50015929-50015979	PrEC	prostate:	n/a
24	chr12:50015929-50015979	HEK293	kidney:	embryo
25	chr12:50015929-50015979	HCT-116	colon:	n/a
26	chr12:50015929-50015979	AG09319	gingival:	n/a
27	chr12:50015929-50015979	Hela-S3	cervix:	n/a
28	chr12:50015929-50015979	RPTEC	kidney:	n/a
29	chr12:50015929-50015979	HRCEpiC	kidney:	n/a
30	chr12:50015929-50015979	HAEpiC	amniotic membrane:	n/a
31	chr12:50015929-50015979	HRPEpiC	eye:	n/a
32	chr12:50015929-50015979	HL-60	blood:	n/a
33	chr12:50015929-50015979	PFSK-1	brain:	n/a
34	chr12:50015929-50015979	H1-hESC	embryonic stem cell:	embryo
35	chr12:50015929-50015979	HUVEC	blood vessel:	n/a
36	chr12:50015929-50015979	NHBE	bronchial:	n/a
37	chr12:50015929-50015979	HIPEpiC	eye:	n/a
38	chr12:50015929-50015979	HNPCEpiC	eye:	n/a
39	chr12:50015929-50015979	HepG2	liver:	n/a
40	chr12:50015929-50015979	Jurkat	blood:	n/a
41	chr12:50015929-50015979	HCM	heart:	n/a
42	chr12:50015929-50015979	HMEC	breast:	n/a
43	chr12:50015929-50015979	GM12892	blood:	n/a
44	chr12:50015929-50015979	ProgFib	skin:	n/a
45	chr12:50015929-50015979	AG04449	skin:	fetal
46	chr12:50015929-50015979	U87	brain:	n/a
47	chr12:50015929-50015979	GM12891	blood:	n/a
48	chr12:50015929-50015979	SAEC	small airway:	n/a
49	chr12:50015929-50015979	NHDF-neo	bronchial:	n/a
50	chr12:50015929-50015979	LNCaP	prostate:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49960207..49964959-chr12:50014167..50018580,9	MCF-7	breast:
2	chr12:50007015..50008609-chr12:50014936..50017001,2	MCF-7	breast:
3	chr12:49757911..49761864-chr12:50015854..50019350,3	K562	blood:
4	chr12:50015693..50017566-chr12:50134887..50137031,3	K562	blood:
5	chr12:49759045..49761163-chr12:50015602..50018404,2	MCF-7	breast:
6	chr12:50015023..50017139-chr12:50367561..50369518,2	K562	blood:
7	chr12:50014216..50017582-chr12:50033050..50038779,6	MCF-7	breast:
8	chr12:50015453..50020013-chr12:50133989..50136234,5	MCF-7	breast:
9	chr12:49976050..49978661-chr12:50015939..50018173,2	MCF-7	breast:
10	chr12:50015484..50017956-chr12:50133972..50136718,3	MCF-7	breast:
11	chr12:50015886..50019957-chr12:50021996..50025809,6	K562	blood:
12	chr12:50011169..50014072-chr12:50015517..50017843,4	K562	blood:
13	chr12:50015702..50019275-chr12:50098468..50101444,3	MCF-7	breast:
14	chr12:49984018..49986358-chr12:50013699..50016395,2	K562	blood:
15	chr12:49960411..49963114-chr12:50014226..50017190,3	K562	blood:
16	chr12:50015896..50018986-chr12:50026399..50031122,6	K562	blood:
17	chr12:49993836..49997498-chr12:50014878..50017386,3	K562	blood:
18	chr12:50015683..50018623-chr12:50134319..50137008,3	K562	blood:
19	chr12:50015579..50017375-chr12:50043895..50046684,2	MCF-7	breast:
20	chr12:50015348..50017930-chr12:50100590..50103903,3	K562	blood:
21	chr12:50015541..50018481-chr12:50099736..50102606,3	MCF-7	breast:
22	chr12:50009212..50015291-chr12:50015627..50018500,8	MCF-7	breast:

No data

Variant related genes	Relation type
PRPF40B	TF binding region
PRPF40B	CpG island
ENSG00000258104	Chromatin interaction
ENSG00000110844	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000123352	Chromatin interaction
ENSG00000187778	Chromatin interaction
ENSG00000161791	Chromatin interaction
ENSG00000257570	Chromatin interaction
ENSG00000135436	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1012874	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506287	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506288	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169126	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169143	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169145	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830696	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836837	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837639	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306422	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306430	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306481	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307828	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313354	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315524	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317778	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1317131	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123764	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123927	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123970	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1993398	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2336447	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4641552	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55637397	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56737983	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56743994	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56906356	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56945609	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57291131	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58756176	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59261129	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60094911	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60126713	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60415769	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60613973	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61281663	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298080	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74086906	0.90[AFR][1000 genomes]
rs74087113	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74087134	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74087188	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs74089557	0.86[ASN][1000 genomes]
rs74089564	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74089566	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74089570	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74089573	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7487779	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7487854	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953412	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964320	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967073	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7968302	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970674	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971176	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971369	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973498	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9805063	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
4	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50013400-50016000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:50013400-50016200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:50014800-50016000	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:50014800-50016000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr12:50015000-50016000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:50015000-50016000	Enhancers	Fetal Lung	lung
7	chr12:50015000-50016200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr12:50015000-50016400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:50015000-50017000	Flanking Active TSS	Dnd41	blood
10	chr12:50015200-50016000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr12:50015200-50016200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:50015200-50016200	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr12:50015400-50016000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:50015400-50016000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr12:50015400-50016000	Enhancers	Colon Smooth Muscle	Colon
16	chr12:50015400-50016000	Enhancers	Pancreas	Pancrea
17	chr12:50015400-50016000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr12:50015400-50016000	Enhancers	HUVEC	blood vessel
19	chr12:50015400-50016200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:50015400-50016200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:50015400-50016200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:50015400-50016200	Enhancers	Brain Substantia Nigra	brain
23	chr12:50015400-50016200	Enhancers	Fetal Heart	heart
24	chr12:50015400-50016200	Enhancers	Placenta	Placenta
25	chr12:50015400-50016200	Enhancers	Stomach Mucosa	stomach
26	chr12:50015400-50016200	Enhancers	A549	lung
27	chr12:50015400-50016400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:50015400-50016600	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr12:50015400-50016800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:50015400-50016800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:50015400-50017000	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr12:50015400-50017000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:50015400-50017000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:50015400-50017000	Flanking Active TSS	Fetal Muscle Leg	muscle
35	chr12:50015400-50017000	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr12:50015400-50017200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:50015600-50016000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
38	chr12:50015600-50016000	Enhancers	Primary B cells from cord blood	blood
39	chr12:50015600-50016000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:50015600-50016000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:50015600-50016000	Enhancers	Liver	Liver
42	chr12:50015600-50016000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr12:50015600-50016000	Enhancers	Hela-S3	cervix
44	chr12:50015600-50016000	Enhancers	HSMM	muscle
45	chr12:50015600-50016200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr12:50015600-50016200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr12:50015600-50016200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr12:50015600-50016200	Enhancers	NH-A	brain
49	chr12:50015600-50016400	Enhancers	Esophagus	oesophagus
50	chr12:50015600-50016400	Active TSS	Right Atrium	heart

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