Variant report

Variant	rs11085493
Chromosome Location	chr19:21948748-21948749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:21948650-21948844	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21948377..21950622-chr19:22016631..22019164,2	MCF-7	breast:
2	chr19:21948493..21950510-chr19:22018479..22020127,2	MCF-7	breast:

Variant related genes	Relation type
ZNF100	TF binding region
ENSG00000198521	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10403795	0.91[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10405142	0.92[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10413152	0.80[ASN][1000 genomes]
rs10422982	0.89[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11671415	0.93[ASN][1000 genomes]
rs11879157	0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs12459784	0.82[ASN][1000 genomes]
rs12459852	0.82[ASN][1000 genomes]
rs12461775	0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs12461975	0.87[JPT][hapmap]
rs12462709	0.83[CHD][hapmap]
rs12463030	0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs1510964	0.80[ASN][1000 genomes]
rs17701305	0.83[CHD][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs2136890	0.80[ASN][1000 genomes]
rs2435003	0.80[ASN][1000 genomes]
rs2435006	0.80[ASN][1000 genomes]
rs2435041	0.96[CHD][hapmap];0.80[ASN][1000 genomes]
rs2435044	0.80[ASN][1000 genomes]
rs2457773	0.80[ASN][1000 genomes]
rs2457785	0.96[CHD][hapmap];0.80[ASN][1000 genomes]
rs2457802	0.80[ASN][1000 genomes]
rs3764576	0.83[CHD][hapmap]
rs3795247	0.93[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4330044	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4352176	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4467196	0.83[ASW][hapmap];0.94[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs4569404	0.82[AFR][1000 genomes]
rs4808296	0.88[ASN][1000 genomes]
rs4808297	0.93[JPT][hapmap];0.97[LWK][hapmap];0.90[MKK][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs56904798	0.82[ASN][1000 genomes]
rs7252777	0.93[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7258769	0.83[ASN][1000 genomes]
rs8101035	0.92[AFR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911422	chr19:21752009-21973929	ZNF genes & repeats Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3441368	chr19:21781459-22182822	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv3339694	chr19:21781479-22182792	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1063115	chr19:21782104-22528039	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv458525	chr19:21796943-22019697	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv578969	chr19:21796943-22019697	ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv3392559	chr19:21798396-21965956	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv911424	chr19:21798441-22471156	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv833783	chr19:21821406-21991838	ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	esv1815274	chr19:21825750-21981855	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv911425	chr19:21841379-22338142	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv911426	chr19:21892040-21973929	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv911427	chr19:21900898-21960407	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv833784	chr19:21902647-22037153	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv578970	chr19:21906655-21973929	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv961193	chr19:21911308-21950500	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	esv3342879	chr19:21913482-21968857	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv1059457	chr19:21940891-21999025	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv1059079	chr19:21940891-22083420	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21906200-21949200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:21908800-21948800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:21920200-21949200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr19:21920800-21949200	Weak transcription	NHLF	lung
5	chr19:21922000-21949400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr19:21922000-21949400	Weak transcription	HSMMtube	muscle
7	chr19:21928800-21949400	Weak transcription	Psoas Muscle	Psoas
8	chr19:21929200-21948800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr19:21933800-21949400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:21934600-21949200	Weak transcription	Colon Smooth Muscle	Colon
11	chr19:21935400-21949400	Weak transcription	Brain Substantia Nigra	brain
12	chr19:21936200-21949400	Weak transcription	Colonic Mucosa	Colon
13	chr19:21937800-21948800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
14	chr19:21938200-21948800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr19:21939800-21948800	Strong transcription	Fetal Stomach	stomach
16	chr19:21940600-21948800	ZNF genes & repeats	GM12878-XiMat	blood
17	chr19:21941800-21949400	Weak transcription	Brain Angular Gyrus	brain
18	chr19:21942000-21949000	Weak transcription	Fetal Brain Male	brain
19	chr19:21942000-21949000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr19:21942000-21949400	Weak transcription	Gastric	stomach
21	chr19:21942400-21949000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr19:21942600-21949000	Weak transcription	Small Intestine	intestine
23	chr19:21942600-21949400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:21943000-21949400	Weak transcription	Aorta	Aorta
25	chr19:21945000-21949400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:21945000-21949400	Weak transcription	Esophagus	oesophagus
27	chr19:21945600-21948800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr19:21945600-21949400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr19:21945800-21949200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr19:21946000-21948800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:21946000-21948800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr19:21946000-21949000	Weak transcription	Adipose Nuclei	Adipose
33	chr19:21946000-21949200	Weak transcription	NH-A	brain
34	chr19:21946000-21949400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr19:21946600-21948800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:21946600-21949000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr19:21946600-21949000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr19:21946800-21948800	Strong transcription	NHEK	skin
39	chr19:21947000-21949000	Weak transcription	Liver	Liver
40	chr19:21947000-21949400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr19:21947000-21949400	Weak transcription	Left Ventricle	heart
42	chr19:21947000-21949600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr19:21947200-21949000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:21947200-21949000	Weak transcription	Brain Hippocampus Middle	brain
45	chr19:21947200-21949200	Weak transcription	Placenta	Placenta
46	chr19:21947200-21949200	Weak transcription	NHDF-Ad	bronchial
47	chr19:21947200-21949400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr19:21947200-21949400	Weak transcription	HSMM	muscle
49	chr19:21947400-21948800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr19:21947400-21949200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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