Variant report

Variant	rs4467196
Chromosome Location	chr19:21950795-21950796
allele	A/C
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	E2F4	chr19:21949973-21950870	MCF10A-Er-Src	breast:	n/a	chr19:21950382-21950390 chr19:21950383-21950390 chr19:21950382-21950390 chr19:21950381-21950391 chr19:21950380-21950391
2	MXI1	chr19:21949451-21950887	SK-N-SH	brain:	n/a	n/a
3	MXI1	chr19:21949709-21951111	IMR90	lung:	n/a	n/a
4	GATA1	chr19:21949693-21950853	K562	blood:	n/a	chr19:21950129-21950136
5	REST	chr19:21949306-21950811	H1-neurons	neurons:	n/a	n/a
6	PBX3	chr19:21950306-21950796	SK-N-SH	brain:	n/a	chr19:21950535-21950544 chr19:21950493-21950502
7	PBX3	chr19:21949893-21950814	SK-N-SH	brain:	n/a	chr19:21950535-21950544 chr19:21950493-21950502
8	GATA3	chr19:21950499-21950816	SH-SY5Y	brain:	n/a	n/a
9	ELF1	chr19:21950034-21950797	MCF-7	breast:	n/a	chr19:21950151-21950163 chr19:21950390-21950399 chr19:21950389-21950400 chr19:21950389-21950400

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21950144..21952867-chr19:22033592..22036117,2	MCF-7	breast:

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

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10403795	0.87[AFR][1000 genomes]
rs10405142	0.88[AFR][1000 genomes]
rs10422982	0.86[AFR][1000 genomes]
rs11085493	0.83[ASW][hapmap];0.94[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs16998303	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs16998353	1.00[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16998413	1.00[CHB][hapmap]
rs2203944	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2244041	1.00[CHB][hapmap]
rs2435002	1.00[CHB][hapmap]
rs2435005	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2435040	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2435045	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2457783	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2457789	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2457790	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs3795247	1.00[YRI][hapmap]
rs4352176	0.88[AFR][1000 genomes]
rs4569404	0.80[AFR][1000 genomes]
rs4597451	0.91[EUR][1000 genomes]
rs4808297	0.85[ASW][hapmap];0.94[LWK][hapmap];0.92[MKK][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs7252777	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs7254091	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8101035	0.90[AFR][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	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
17	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
18	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
19	nsv578971	chr19:21950337-22008229	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21948600-21950800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:21948600-21950800	Active TSS	Right Atrium	heart
3	chr19:21948600-21951200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:21948800-21950800	Active TSS	H1 Cell Line	embryonic stem cell
5	chr19:21948800-21950800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr19:21949000-21950800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:21949000-21950800	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr19:21949000-21950800	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr19:21949000-21950800	Active TSS	Muscle Satellite Cultured Cells	--
10	chr19:21949000-21950800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:21949000-21950800	Active TSS	Fetal Brain Female	brain
12	chr19:21949000-21950800	Active TSS	Stomach Smooth Muscle	stomach
13	chr19:21949000-21950800	Active TSS	GM12878-XiMat	blood
14	chr19:21949200-21950800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr19:21949200-21950800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:21949200-21950800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:21949200-21950800	Active TSS	Primary T cells from cord blood	blood
18	chr19:21949200-21950800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:21949200-21950800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:21949200-21950800	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr19:21949200-21950800	Active TSS	Thymus	Thymus
22	chr19:21949200-21950800	Active TSS	K562	blood
23	chr19:21949200-21950800	Active TSS	NH-A	brain
24	chr19:21949200-21950800	Active TSS	NHLF	lung
25	chr19:21949400-21950800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:21949400-21950800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:21949400-21950800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:21949400-21950800	Active TSS	Brain Anterior Caudate	brain
29	chr19:21949400-21950800	Active TSS	Colonic Mucosa	Colon
30	chr19:21949400-21950800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr19:21949400-21950800	Active TSS	Fetal Lung	lung
32	chr19:21949400-21950800	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr19:21949600-21950800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:21949600-21950800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:21949600-21950800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:21949600-21950800	Active TSS	Duodenum Mucosa	Duodenum
37	chr19:21949600-21950800	Active TSS	Fetal Muscle Trunk	muscle
38	chr19:21949800-21950800	Active TSS	Primary hematopoietic stem cells	blood
39	chr19:21949800-21950800	Active TSS	Adipose Nuclei	Adipose
40	chr19:21949800-21950800	Active TSS	Monocytes-CD14+_RO01746	blood
41	chr19:21950000-21951000	Active TSS	Primary B cells from cord blood	blood
42	chr19:21950200-21950800	Active TSS	Brain Germinal Matrix	brain
43	chr19:21950400-21950800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr19:21950400-21950800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr19:21950400-21950800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:21950400-21950800	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr19:21950400-21950800	Flanking Active TSS	Dnd41	blood
48	chr19:21950400-21950800	Active TSS	HepG2	liver
49	chr19:21950600-21950800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr19:21950600-21950800	Enhancers	Primary B cells from peripheral blood	blood

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