Variant report

Variant	rs388229
Chromosome Location	chr19:21364177-21364178
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	KAP1	chr19:21364026-21364226	K562	blood:	n/a	n/a

Variant related genes	Relation type
ZNF431	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10406253	0.82[JPT][hapmap]
rs10408496	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10410901	1.00[CEU][hapmap]
rs10854042	1.00[CEU][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1470021	1.00[CEU][hapmap]
rs1609441	1.00[CEU][hapmap]
rs1864208	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs193900	0.82[ASN][1000 genomes]
rs2358806	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2358808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250002	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs250003	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs29703	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs29705	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs29715	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs29720	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs29722	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs29725	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs29728	0.95[ASN][1000 genomes]
rs29729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs30109	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs30111	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs416001	0.98[ASN][1000 genomes]
rs57740	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[EUR][1000 genomes]
rs606174	0.83[EUR][1000 genomes]
rs606958	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6511195	1.00[CEU][hapmap]
rs6511206	1.00[CEU][hapmap]
rs694208	0.83[EUR][1000 genomes]
rs7248419	0.88[ASN][1000 genomes]
rs7250987	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7251158	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7251646	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7256576	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7257196	0.81[ASN][1000 genomes]
rs7259368	0.82[ASN][1000 genomes]
rs72620580	0.90[EUR][1000 genomes]
rs72620581	0.90[EUR][1000 genomes]
rs8101918	0.83[JPT][hapmap]
rs8106801	1.00[CEU][hapmap]
rs8108314	0.83[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	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
2	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv911414	chr19:21355473-21454672	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21325600-21365800	Weak transcription	Brain Angular Gyrus	brain
2	chr19:21331000-21371000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:21333000-21373000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:21333400-21364800	Weak transcription	HUVEC	blood vessel
5	chr19:21335000-21365000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:21348600-21366400	Weak transcription	Brain Substantia Nigra	brain
7	chr19:21349600-21370600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:21353200-21364800	Weak transcription	Brain Anterior Caudate	brain
9	chr19:21353200-21364800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr19:21353800-21364800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:21355000-21369600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:21355200-21369400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:21355200-21370800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:21355200-21371000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:21356400-21364400	Strong transcription	Ovary	ovary
16	chr19:21356600-21368600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr19:21357400-21366000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr19:21357400-21369000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr19:21358000-21366000	Weak transcription	Right Ventricle	heart
20	chr19:21358200-21368600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
21	chr19:21358600-21369000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:21358800-21365000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr19:21359400-21364600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr19:21359600-21369000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr19:21359800-21367400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:21359800-21367600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
27	chr19:21359800-21370200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr19:21360000-21364200	Strong transcription	HSMM	muscle
29	chr19:21360000-21371200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr19:21360200-21367200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
31	chr19:21360400-21366800	Weak transcription	Lung	lung
32	chr19:21360400-21371200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:21360600-21366200	ZNF genes & repeats	Dnd41	blood
34	chr19:21360600-21367400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
35	chr19:21360600-21368600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr19:21360800-21367200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
37	chr19:21360800-21368400	ZNF genes & repeats	Primary B cells from cord blood	blood
38	chr19:21360800-21368400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:21361000-21367200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
40	chr19:21361000-21367200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
41	chr19:21361000-21367600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
42	chr19:21361000-21368400	ZNF genes & repeats	Adipose Nuclei	Adipose
43	chr19:21361200-21364800	Strong transcription	Osteobl	bone
44	chr19:21361400-21364400	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr19:21361400-21364600	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr19:21361400-21367200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:21361400-21369200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:21361600-21364800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:21361600-21364800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr19:21361600-21367400	ZNF genes & repeats	Primary B cells from peripheral blood	blood

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