Variant report

Variant	rs1802029
Chromosome Location	chr19:36395446-36395447
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:36395320-36395470	GM12864	blood:	n/a	n/a
2	POLR2A	chr19:36394119-36395997	HL-60	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36387478..36389349-chr19:36394132..36396571,2	MCF-7	breast:
2	chr19:36389776..36392991-chr19:36393581..36401271,10	K562	blood:
3	chr19:36205479..36207948-chr19:36393989..36396293,2	K562	blood:
4	chr19:36393311..36395845-chr19:36427548..36429396,2	MCF-7	breast:
5	chr19:36394774..36396289-chr19:36397745..36399812,2	MCF-7	breast:
6	chr19:36390133..36392611-chr19:36392789..36396319,5	MCF-7	breast:

No data

Variant related genes	Relation type
NFKBID	TF binding region
ENSG00000126243	Chromatin interaction
ENSG00000011600	Chromatin interaction
ENSG00000167604	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11878547	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11880785	1.00[MEX][hapmap]
rs1268319	1.00[MEX][hapmap]
rs16960862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17173033	0.83[ASN][1000 genomes]
rs17549166	0.83[EUR][1000 genomes]
rs230260	0.86[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs230261	1.00[MEX][hapmap]
rs33964243	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761086	1.00[CEU][hapmap]
rs376240	0.86[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs56264349	0.83[ASN][1000 genomes]
rs58422001	0.91[ASN][1000 genomes]
rs7245383	1.00[CEU][hapmap]
rs7247769	1.00[CEU][hapmap]
rs7251744	0.90[ASN][1000 genomes]
rs7251879	0.90[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7252902	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7253040	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7253826	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254113	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256952	1.00[CEU][hapmap]
rs7258154	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7258214	0.90[ASN][1000 genomes]
rs7258909	0.90[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs8101472	1.00[CEU][hapmap]
rs8103718	1.00[CEU][hapmap]
rs8105153	0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8106480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs8106495	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[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]
rs8108360	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8108459	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8110231	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8111740	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8113524	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][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];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8113704	0.81[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs879407	0.90[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36391600-36397400	Weak transcription	Stomach Mucosa	stomach
2	chr19:36391800-36396000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr19:36391800-36396000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:36391800-36396400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr19:36392000-36398000	Weak transcription	Brain Angular Gyrus	brain
6	chr19:36392200-36397400	Weak transcription	Colon Smooth Muscle	Colon
7	chr19:36392200-36398600	Weak transcription	Right Atrium	heart
8	chr19:36393600-36397400	Weak transcription	Hela-S3	cervix
9	chr19:36394000-36398000	Weak transcription	Brain Hippocampus Middle	brain
10	chr19:36394400-36395800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:36394400-36398400	Weak transcription	Brain Substantia Nigra	brain
12	chr19:36394600-36396200	Enhancers	Primary B cells from peripheral blood	blood
13	chr19:36394600-36397200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:36394600-36397800	Weak transcription	Liver	Liver
15	chr19:36394600-36398000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr19:36394800-36395600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:36394800-36396000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr19:36394800-36396000	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr19:36394800-36396000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:36394800-36396000	Weak transcription	NHLF	lung
21	chr19:36394800-36396000	Weak transcription	Osteobl	bone
22	chr19:36394800-36396400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr19:36394800-36396400	Enhancers	K562	blood
24	chr19:36394800-36397000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr19:36394800-36397400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:36394800-36397400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr19:36394800-36397800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr19:36394800-36397800	Weak transcription	Right Ventricle	heart
29	chr19:36394800-36398000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr19:36394800-36398200	Weak transcription	Colonic Mucosa	Colon
31	chr19:36394800-36398400	Weak transcription	Pancreas	Pancrea
32	chr19:36394800-36404000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr19:36395000-36395600	Enhancers	Primary hematopoietic stem cells	blood
34	chr19:36395000-36395600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr19:36395000-36395800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr19:36395000-36395800	Genic enhancers	Thymus	Thymus
37	chr19:36395000-36396000	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr19:36395000-36396000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr19:36395000-36396000	Weak transcription	Adipose Nuclei	Adipose
40	chr19:36395000-36396000	Weak transcription	A549	lung
41	chr19:36395000-36396200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr19:36395000-36396400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr19:36395000-36396400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr19:36395000-36396400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr19:36395000-36396400	Enhancers	Fetal Thymus	thymus
46	chr19:36395000-36397200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr19:36395000-36398000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:36395000-36398000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr19:36395000-36398000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:36395000-36398000	Weak transcription	HSMM	muscle

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