Variant report

Variant	rs10414846
Chromosome Location	chr19:35772471-35772472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:35769553-35772534	K562	blood:	n/a	n/a
2	MTA3	chr19:35772122-35772573	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:35770753-35772570	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr19:35770903-35772628	GM12891	blood:	n/a	n/a
5	POLR2A	chr19:35770381-35772592	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:35770782-35772559	GM12878	blood:	n/a	n/a
7	PBX3	chr19:35770729-35772616	A549	lung:	n/a	n/a
8	POLR2A	chr19:35770723-35772481	HepG2	liver:	n/a	n/a
9	POLR2A	chr19:35770775-35772509	MCF-7	breast:	n/a	n/a
10	POLR2A	chr19:35770928-35772473	H1-hESC	embryonic stem cell:	n/a	n/a
11	MTA3	chr19:35770868-35772664	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:35770717-35772620	K562	blood:	n/a	n/a
13	POLR2A	chr19:35770336-35772496	A549	lung:	n/a	n/a
14	POLR2A	chr19:35769455-35772473	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr19:35770670-35772512	K562	blood:	n/a	n/a
16	NFATC1	chr19:35772220-35772559	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:35771231-35772480	MCF10A-Er-Src	breast:	n/a	n/a
18	PBX3	chr19:35770840-35772509	A549	lung:	n/a	n/a
19	POLR2A	chr19:35772410-35772812	HepG2	liver:	n/a	n/a
20	POLR2A	chr19:35772283-35772481	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr19:35770673-35772536	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35771719..35773722-chr19:35808312..35810561,2	K562	blood:
2	chr19:35758290..35762202-chr19:35770035..35773582,5	K562	blood:
3	chr19:35769830..35774693-chr19:35781606..35784141,6	K562	blood:

No data

Variant related genes	Relation type
HAMP	TF binding region
ENSG00000012124	Chromatin interaction
ENSG00000105698	Chromatin interaction
ENSG00000105695	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10405246	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10410675	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10419261	1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10419959	0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10421096	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421504	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421768	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10424619	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1051995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1052033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12973672	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12974791	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12975284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12979058	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12979792	0.89[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12981527	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12984022	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12985618	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12986033	1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13345192	0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2073899	0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280744	1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280745	1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28365133	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28365136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34832786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35250673	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35497966	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35959789	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62109572	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62112772	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71352913	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256866	1.00[ASW][hapmap];0.93[CEU][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8101606	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv911618	chr19:35734107-35807845	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	esv1836312	chr19:35741456-35786868	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
9	nsv911619	chr19:35749563-35775441	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
10	nsv911621	chr19:35752917-35772471	Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic 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 target site	30 gene(s)	inside rSNPs	n/a
11	nsv911622	chr19:35752917-35773146	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
12	nsv911623	chr19:35752917-35775441	Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10414846	U2AF1L4	cis	lymphoblastoid	seeQTL
rs10414846	PHLDB3	cis	cerebellum	SCAN
rs10414846	ZFP36	cis	parietal	SCAN
rs10414846	SERTAD3	cis	cerebellum	SCAN

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35761400-35775600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr19:35762800-35780000	Weak transcription	Hela-S3	cervix
3	chr19:35763600-35772800	Weak transcription	HSMMtube	muscle
4	chr19:35763600-35773400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr19:35765400-35772800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr19:35767800-35772800	Weak transcription	Osteobl	bone
7	chr19:35767800-35775800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:35768200-35775600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr19:35768400-35773400	Weak transcription	Small Intestine	intestine
10	chr19:35768400-35781400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:35768800-35781400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:35769000-35772600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr19:35769200-35775600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr19:35769800-35775600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:35770000-35772800	Weak transcription	Primary T cells from cord blood	blood
16	chr19:35770000-35775600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr19:35770000-35775800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr19:35770200-35772600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr19:35770200-35773000	Enhancers	HepG2	liver
20	chr19:35770200-35773000	Weak transcription	HMEC	breast
21	chr19:35770200-35775400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr19:35770200-35775600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr19:35770400-35776800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:35770600-35772600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr19:35770600-35772800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr19:35770600-35772800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr19:35770600-35773000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr19:35770600-35773000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:35770600-35773000	Weak transcription	Left Ventricle	heart
30	chr19:35770600-35773200	Weak transcription	Gastric	stomach
31	chr19:35770600-35773400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr19:35770600-35773600	Enhancers	Fetal Lung	lung
33	chr19:35770800-35772600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:35770800-35772800	Enhancers	Brain Hippocampus Middle	brain
35	chr19:35770800-35772800	Weak transcription	Colon Smooth Muscle	Colon
36	chr19:35770800-35772800	Weak transcription	Fetal Heart	heart
37	chr19:35770800-35772800	Weak transcription	Fetal Thymus	thymus
38	chr19:35770800-35773600	Enhancers	Spleen	Spleen
39	chr19:35770800-35775400	Enhancers	Primary B cells from peripheral blood	blood
40	chr19:35771000-35772600	Weak transcription	Thymus	Thymus
41	chr19:35771000-35772800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:35771000-35772800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:35771000-35772800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr19:35771000-35773000	Weak transcription	Fetal Intestine Large	intestine
45	chr19:35771000-35773200	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr19:35771000-35773200	Weak transcription	Brain Germinal Matrix	brain
47	chr19:35771000-35773400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr19:35771000-35773600	Enhancers	GM12878-XiMat	blood
49	chr19:35771000-35773800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:35771000-35774600	Enhancers	Primary B cells from cord blood	blood

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