Variant report

Variant	rs73930869
Chromosome Location	chr19:37393114-37393115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10402227	1.00[EUR][1000 genomes]
rs10403877	1.00[EUR][1000 genomes]
rs10410788	1.00[EUR][1000 genomes]
rs10419685	1.00[EUR][1000 genomes]
rs10424415	1.00[EUR][1000 genomes]
rs10426077	1.00[EUR][1000 genomes]
rs10426229	1.00[EUR][1000 genomes]
rs11878527	1.00[EUR][1000 genomes]
rs12459546	1.00[EUR][1000 genomes]
rs2080821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2309220	0.81[EUR][1000 genomes]
rs487318	1.00[EUR][1000 genomes]
rs491951	1.00[EUR][1000 genomes]
rs500244	1.00[EUR][1000 genomes]
rs500370	1.00[EUR][1000 genomes]
rs510834	1.00[EUR][1000 genomes]
rs519455	1.00[EUR][1000 genomes]
rs526426	1.00[EUR][1000 genomes]
rs529944	1.00[EUR][1000 genomes]
rs535477	1.00[EUR][1000 genomes]
rs547831	1.00[EUR][1000 genomes]
rs562480	1.00[EUR][1000 genomes]
rs56286503	1.00[EUR][1000 genomes]
rs56838197	1.00[EUR][1000 genomes]
rs57427270	0.81[EUR][1000 genomes]
rs57904468	1.00[EUR][1000 genomes]
rs579731	1.00[EUR][1000 genomes]
rs59122318	1.00[EUR][1000 genomes]
rs7252518	0.81[EUR][1000 genomes]
rs7254717	0.81[EUR][1000 genomes]
rs73612926	0.81[EUR][1000 genomes]
rs73626751	1.00[EUR][1000 genomes]
rs8105472	0.81[EUR][1000 genomes]
rs826272	1.00[EUR][1000 genomes]
rs9304876	1.00[EUR][1000 genomes]
rs9304877	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv1060155	chr19:37274915-37458788	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv544000	chr19:37274915-37458788	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
11	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	nsv911651	chr19:37300554-37428465	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
15	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
16	nsv458569	chr19:37331614-37412887	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv579462	chr19:37331614-37412887	Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	nsv523848	chr19:37357289-37487632	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
19	nsv524754	chr19:37383894-37403224	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
20	nsv963043	chr19:37384319-37394843	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37344400-37406400	ZNF genes & repeats	Liver	Liver
2	chr19:37346400-37404600	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:37353400-37405000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:37373800-37403400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:37374000-37400400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:37374000-37405400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:37374200-37404200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr19:37374400-37395000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:37374400-37395800	ZNF genes & repeats	Brain Germinal Matrix	brain
10	chr19:37374400-37400400	ZNF genes & repeats	Fetal Brain Female	brain
11	chr19:37374400-37406400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:37374600-37400400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:37375000-37397200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:37375200-37393400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr19:37379400-37400400	ZNF genes & repeats	Primary T cells from cord blood	blood
16	chr19:37379600-37399600	ZNF genes & repeats	Ovary	ovary
17	chr19:37380000-37399800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr19:37380200-37396800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr19:37380400-37405000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:37381000-37393200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
21	chr19:37385200-37398200	Weak transcription	Fetal Thymus	thymus
22	chr19:37388200-37399400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:37388600-37394000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:37388800-37395600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:37388800-37399600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
26	chr19:37389000-37399600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr19:37389600-37394800	Weak transcription	HSMM	muscle
28	chr19:37390000-37395600	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr19:37390000-37396200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr19:37390000-37396400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr19:37390000-37399400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
32	chr19:37390400-37395200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:37390800-37394000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:37391000-37397000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
35	chr19:37391200-37393200	ZNF genes & repeats	Colon Smooth Muscle	Colon
36	chr19:37391200-37393400	ZNF genes & repeats	Primary B cells from cord blood	blood
37	chr19:37391200-37393400	ZNF genes & repeats	Fetal Muscle Leg	muscle
38	chr19:37391200-37393600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
39	chr19:37391200-37396000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr19:37391400-37394000	ZNF genes & repeats	Left Ventricle	heart
41	chr19:37391600-37393200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
42	chr19:37391600-37393400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
43	chr19:37391600-37393400	ZNF genes & repeats	Fetal Lung	lung
44	chr19:37391600-37400000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
45	chr19:37391600-37400400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
46	chr19:37391600-37400400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
47	chr19:37391600-37403200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
48	chr19:37391800-37393200	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
49	chr19:37391800-37393400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
50	chr19:37391800-37393400	ZNF genes & repeats	Right Ventricle	heart

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