Variant report

Variant	rs11669332
Chromosome Location	chr19:40779792-40779793
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr19:40779488-40780073	GM12878	blood:	n/a	n/a
2	MAX	chr19:40779705-40779987	K562	blood:	n/a	n/a
3	POLR2A	chr19:40779655-40779900	K562	blood:	n/a	n/a
4	MAZ	chr19:40779771-40780107	K562	blood:	n/a	n/a
5	POLR2A	chr19:40779609-40780138	K562	blood:	n/a	n/a
6	POLR2A	chr19:40779771-40779976	HepG2	liver:	n/a	n/a
7	POLR2A	chr19:40731149-40781638	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr19:40779523-40781545	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40776468..40779839-chr19:40784717..40787633,5	MCF-7	breast:
2	chr19:40778844..40781132-chr19:41035904..41037926,2	K562	blood:
3	chr19:40773358..40775863-chr19:40778274..40780379,3	K562	blood:
4	chr19:40774152..40777118-chr19:40779107..40782198,3	MCF-7	breast:
5	chr19:40776409..40778614-chr19:40779445..40781045,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAP3K10-1	chr19:40779416-40780009	l_1686_chr19:40779415-40784234_testes

No data

Variant related genes	Relation type
AKT2	TF binding region
ENSG00000160460	Chromatin interaction
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	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11666860	0.83[EUR][1000 genomes]
rs11667443	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11667768	0.85[EUR][1000 genomes]
rs11667774	0.85[EUR][1000 genomes]
rs11668006	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11668520	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11669006	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11670323	0.88[EUR][1000 genomes]
rs11670860	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11670912	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11671439	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17846842	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2356230	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28746190	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35090721	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36058450	0.84[ASN][1000 genomes]
rs3730052	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3730055	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3730262	0.82[ASN][1000 genomes]
rs41275746	0.85[AFR][1000 genomes];0.86[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	0.90[AFR][1000 genomes];0.86[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	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6508937	0.82[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	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7249819	0.85[EUR][1000 genomes]
rs7252506	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73933218	0.84[ASN][1000 genomes]
rs73933225	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73933232	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73933236	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73933237	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73933238	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73933240	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73933241	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8105478	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs873143	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874269	0.86[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:123 , 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	chr19:40767800-40780400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:40768200-40780400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr19:40769600-40783600	Weak transcription	Fetal Kidney	kidney
8	chr19:40770000-40789600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:40770000-40789600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr19:40770200-40789600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr19:40770200-40790200	Weak transcription	Aorta	Aorta
12	chr19:40770400-40784000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:40771000-40780400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:40771000-40780800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr19:40771000-40783600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr19:40771400-40789400	Weak transcription	HUVEC	blood vessel
17	chr19:40771600-40780400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr19:40771600-40786000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr19:40773800-40780800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:40774600-40780000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr19:40774600-40780000	Weak transcription	NHDF-Ad	bronchial
22	chr19:40774800-40780400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr19:40776000-40779800	Weak transcription	Brain Germinal Matrix	brain
24	chr19:40776000-40787400	Weak transcription	A549	lung
25	chr19:40776200-40780400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr19:40776400-40779800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr19:40776400-40780400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr19:40776400-40785000	Weak transcription	NHLF	lung
29	chr19:40776600-40780000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:40776600-40780400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:40776600-40783200	Weak transcription	Fetal Intestine Large	intestine
32	chr19:40776600-40783800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr19:40776600-40785800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr19:40776800-40780400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr19:40777800-40780200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr19:40778000-40780000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr19:40778000-40786400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr19:40778200-40780000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr19:40778400-40780000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr19:40778400-40780200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:40778400-40783600	Weak transcription	NHEK	skin
42	chr19:40778600-40779800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr19:40778600-40779800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr19:40778600-40779800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr19:40778600-40779800	Weak transcription	Gastric	stomach
46	chr19:40778600-40780000	Strong transcription	HepG2	liver
47	chr19:40778600-40784000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:40778600-40784400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr19:40778800-40779800	Weak transcription	Brain Angular Gyrus	brain
50	chr19:40778800-40779800	Weak transcription	Brain Anterior Caudate	brain

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