Variant report

Variant	rs11667443
Chromosome Location	chr19:40778713-40778714
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr19:40778618-40779119	K562	blood:	n/a	n/a
2	POLR2A	chr19:40778590-40779043	K562	blood:	n/a	n/a
3	TBL1XR1	chr19:40778273-40778942	K562	blood:	n/a	n/a
4	GATA2	chr19:40778584-40779096	K562	blood:	n/a	n/a
5	TBL1XR1	chr19:40778314-40779078	K562	blood:	n/a	n/a
6	HMGN3	chr19:40778657-40779026	K562	blood:	n/a	n/a
7	ARID3A	chr19:40778392-40779106	K562	blood:	n/a	n/a
8	CEBPD	chr19:40778558-40779143	K562	blood:	n/a	n/a
9	TBP	chr19:40778665-40779140	K562	blood:	n/a	n/a
10	GATA1	chr19:40778417-40779377	PBDE	blood:	n/a	chr19:40779267-40779277
11	MAX	chr19:40778586-40779096	K562	blood:	n/a	n/a
12	MAFF	chr19:40778567-40778959	K562	blood:	n/a	n/a
13	MAX	chr19:40778239-40779043	K562	blood:	n/a	chr19:40778286-40778295 chr19:40778287-40778294
14	CEBPB	chr19:40778379-40779154	K562	blood:	n/a	n/a
15	CEBPD	chr19:40778564-40779167	K562	blood:	n/a	n/a
16	POLR2A	chr19:40778527-40779091	K562	blood:	n/a	n/a
17	POLR2A	chr19:40778612-40779046	K562	blood:	n/a	n/a
18	POLR2A	chr19:40778292-40778881	K562	blood:	n/a	n/a
19	TRIM28	chr19:40778301-40779201	K562	blood:	n/a	n/a
20	MYC	chr19:40778104-40779038	K562	blood:	n/a	chr19:40778286-40778295 chr19:40778287-40778294
21	STAT5A	chr19:40778456-40779177	K562	blood:	n/a	n/a
22	YY1	chr19:40778653-40778847	K562	blood:	n/a	n/a
23	NR2F2	chr19:40778225-40779200	K562	blood:	n/a	n/a
24	TEAD4	chr19:40778361-40779096	K562	blood:	n/a	n/a
25	TEAD4	chr19:40778088-40779191	K562	blood:	n/a	n/a
26	CBX3	chr19:40778246-40779098	K562	blood:	n/a	n/a
27	POLR2A	chr19:40778078-40779164	K562	blood:	n/a	n/a
28	EP300	chr19:40778428-40779095	K562	blood:	n/a	n/a
29	RCOR1	chr19:40778615-40779117	K562	blood:	n/a	n/a
30	HDAC2	chr19:40778688-40779036	K562	blood:	n/a	n/a
31	CHD2	chr19:40778196-40778944	K562	blood:	n/a	n/a
32	NFYA	chr19:40778625-40779037	K562	blood:	n/a	n/a
33	CUX1	chr19:40778154-40779040	K562	blood:	n/a	n/a
34	ZNF143	chr19:40778451-40778954	K562	blood:	n/a	n/a
35	POLR2A	chr19:40778573-40779095	K562	blood:	n/a	n/a
36	ZNF274	chr19:40778659-40779039	K562	blood:	n/a	n/a
37	CEBPB	chr19:40778270-40779334	K562	blood:	n/a	n/a
38	PML	chr19:40778563-40779096	K562	blood:	n/a	n/a
39	RCOR1	chr19:40778529-40779134	K562	blood:	n/a	n/a
40	NR2F2	chr19:40778448-40779524	K562	blood:	n/a	n/a
41	STAT5A	chr19:40778631-40779090	K562	blood:	n/a	n/a
42	POLR2A	chr19:40731149-40781638	PANC-1	pancreas:	n/a	n/a
43	BHLHE40	chr19:40778193-40779131	K562	blood:	n/a	n/a
44	ZMIZ1	chr19:40778612-40779122	K562	blood:	n/a	n/a
45	EP300	chr19:40778433-40779145	K562	blood:	n/a	n/a
46	PML	chr19:40778264-40779142	K562	blood:	n/a	n/a
47	GATA2	chr19:40778626-40779109	K562	blood:	n/a	n/a
48	MAFK	chr19:40778294-40778926	K562	blood:	n/a	n/a
49	TAL1	chr19:40778321-40779157	K562	blood:	n/a	n/a
50	CCNT2	chr19:40778633-40779035	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:40776468..40779839-chr19:40784717..40787633,5	MCF-7	breast:
2	chr19:40773358..40775863-chr19:40778274..40780379,3	K562	blood:
3	chr19:40769216..40771181-chr19:40778063..40779733,2	K562	blood:

No data

Variant related genes	Relation type
AKT2	TF binding region
ENSG00000105221	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11665880	0.85[EUR][1000 genomes]
rs11666690	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11666860	0.83[EUR][1000 genomes]
rs11667768	0.85[EUR][1000 genomes]
rs11667774	0.85[EUR][1000 genomes]
rs11668006	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11668520	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11669006	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11669332	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11670323	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11670860	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11670912	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11671439	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17846842	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2356230	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28746190	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35090721	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36058450	0.84[ASN][1000 genomes]
rs3730052	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3730055	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3730262	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs41275746	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41275748	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41275750	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs45497695	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56672337	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58094119	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59058760	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59106111	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6508937	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66623822	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs67587726	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7245751	0.88[EUR][1000 genomes]
rs7247515	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7249819	0.85[EUR][1000 genomes]
rs7252506	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73933218	0.84[ASN][1000 genomes]
rs73933225	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73933232	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73933236	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73933237	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73933238	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73933240	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73933241	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8105478	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs873143	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874269	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][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	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised 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	30 gene(s)	inside rSNPs	diseases
5	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer 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	35 gene(s)	inside rSNPs	diseases
6	nsv1064502	chr19:40758049-40781360	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1063993	chr19:40763787-40781360	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1059884	chr19:40763839-40781360	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1057052	chr19:40776128-40789766	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40759800-40780600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:40762000-40779800	Weak transcription	Stomach Mucosa	stomach
3	chr19:40762800-40780800	Weak transcription	Small Intestine	intestine
4	chr19:40766200-40788600	Weak transcription	HSMMtube	muscle
5	chr19:40767600-40779600	Strong transcription	Fetal Stomach	stomach
6	chr19:40767800-40780400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr19:40768200-40780400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr19:40769000-40779600	Strong transcription	Fetal Intestine Small	intestine
9	chr19:40769600-40783600	Weak transcription	Fetal Kidney	kidney
10	chr19:40770000-40789600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:40770000-40789600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr19:40770200-40789600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr19:40770200-40790200	Weak transcription	Aorta	Aorta
14	chr19:40770400-40784000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:40771000-40780400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:40771000-40780800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr19:40771000-40783600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:40771400-40779400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr19:40771400-40789400	Weak transcription	HUVEC	blood vessel
20	chr19:40771600-40780400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr19:40771600-40786000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr19:40773600-40779600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr19:40773800-40780800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr19:40774400-40778800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr19:40774600-40780000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr19:40774600-40780000	Weak transcription	NHDF-Ad	bronchial
27	chr19:40774800-40779600	Weak transcription	Colon Smooth Muscle	Colon
28	chr19:40774800-40780400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr19:40776000-40779800	Weak transcription	Brain Germinal Matrix	brain
30	chr19:40776000-40787400	Weak transcription	A549	lung
31	chr19:40776200-40778800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr19:40776200-40780400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr19:40776400-40779400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr19:40776400-40779800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr19:40776400-40780400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr19:40776400-40785000	Weak transcription	NHLF	lung
37	chr19:40776600-40779600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:40776600-40779600	Weak transcription	Ovary	ovary
39	chr19:40776600-40780000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr19:40776600-40780400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr19:40776600-40783200	Weak transcription	Fetal Intestine Large	intestine
42	chr19:40776600-40783800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr19:40776600-40785800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr19:40776800-40780400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr19:40777000-40779600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr19:40777000-40779600	Weak transcription	Fetal Brain Male	brain
47	chr19:40777400-40778800	Genic enhancers	Primary T cells from cord blood	blood
48	chr19:40777400-40778800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr19:40777400-40778800	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr19:40777400-40778800	Strong transcription	Stomach Smooth Muscle	stomach

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