Variant report

Variant	rs10417952
Chromosome Location	chr19:35663530-35663531
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:35660634..35663962-chr19:35667353..35669168,3	K562	blood:
2	chr19:35662646..35664738-chr19:35675000..35677629,2	K562	blood:
3	chr19:35644439..35646610-chr19:35662548..35664453,2	MCF-7	breast:
4	chr19:35659935..35661802-chr19:35663380..35667024,3	K562	blood:
5	chr19:35662152..35664028-chr19:35739883..35742034,2	K562	blood:
6	chr19:35662127..35664028-chr19:35738687..35742034,3	K562	blood:

Variant related genes	Relation type
ENSG00000105699	Chromatin interaction
ENSG00000089327	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10410590	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10417962	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12608443	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13344454	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28434318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4805109	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4806097	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56115369	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56821088	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8109080	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];0.98[ASN][1000 genomes]
rs886134	1.00[CEU][hapmap];0.89[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];0.98[ASN][1000 genomes]
rs886135	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];0.98[ASN][1000 genomes]
rs886138	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

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	nsv911616	chr19:35577870-35669071	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	esv2757694	chr19:35653642-35673333	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2758757	chr19:35653642-35673333	Genic enhancers Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv2470	chr19:35655281-35702565	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
7	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
8	esv3395817	chr19:35659112-35663810	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv3503601	chr19:35659912-35666960	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv3503603	chr19:35660362-35666860	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv516540	chr19:35660450-35685536	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv3503604	chr19:35660647-35665984	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv579358	chr19:35660670-35663733	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv579359	chr19:35660752-35665515	Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv579360	chr19:35660752-35665573	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv9709	chr19:35660761-35667329	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	esv9184	chr19:35660864-35665915	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	esv3318519	chr19:35660887-35665907	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	esv3318520	chr19:35660942-35665841	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	esv3318517	chr19:35660977-35665872	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv828532	chr19:35660979-35665004	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	nsv828533	chr19:35660979-35667253	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	esv3503602	chr19:35661022-35665848	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
24	esv3503605	chr19:35661022-35665848	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
25	esv3318521	chr19:35661066-35665802	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
26	nsv498898	chr19:35661079-35665800	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
27	esv3318522	chr19:35661080-35665800	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
28	esv13653	chr19:35661185-35666238	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
29	nsv828534	chr19:35661262-35665004	Genic enhancers ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
30	nsv819243	chr19:35661284-35666027	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
31	esv3318760	chr19:35661512-35667610	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
32	esv3318761	chr19:35661512-35667610	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
33	nsv579362	chr19:35661787-35663916	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
34	nsv579363	chr19:35661787-35664583	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
35	nsv579364	chr19:35661787-35664964	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
36	nsv579365	chr19:35661787-35665515	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
37	nsv579366	chr19:35661787-35665573	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
38	nsv579367	chr19:35661787-35665930	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
39	nsv817831	chr19:35661787-35673243	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
40	nsv579368	chr19:35661787-35680002	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
41	nsv828535	chr19:35661994-35665004	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
42	nsv514896	chr19:35662192-35664852	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
43	nsv579369	chr19:35662228-35663916	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
44	nsv579370	chr19:35662228-35664207	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
45	nsv579371	chr19:35662228-35664583	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
46	nsv579372	chr19:35662228-35664807	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
47	nsv579373	chr19:35662228-35665515	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
48	nsv579374	chr19:35662228-35665573	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
49	nsv579375	chr19:35662228-35665930	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
50	nsv579376	chr19:35662257-35665573	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	3 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	chr19:35653400-35663800	Weak transcription	Stomach Mucosa	stomach
2	chr19:35653600-35667400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:35655200-35667600	Weak transcription	Colonic Mucosa	Colon
4	chr19:35657600-35666800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:35657800-35663600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr19:35657800-35663800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr19:35657800-35666800	Weak transcription	Right Ventricle	heart
8	chr19:35658000-35663600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:35658000-35667000	Weak transcription	HSMM	muscle
10	chr19:35658200-35666800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr19:35658200-35666800	Weak transcription	Osteobl	bone
12	chr19:35658400-35664600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:35658800-35667200	Weak transcription	NH-A	brain
14	chr19:35659400-35663600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr19:35659400-35665600	Weak transcription	A549	lung
16	chr19:35659600-35666800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:35659600-35667000	Weak transcription	GM12878-XiMat	blood
18	chr19:35659800-35666400	Weak transcription	Esophagus	oesophagus
19	chr19:35660400-35664200	Weak transcription	Hela-S3	cervix
20	chr19:35660800-35663600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:35660800-35663800	Weak transcription	Dnd41	blood
22	chr19:35660800-35673400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:35661000-35666800	Weak transcription	Lung	lung
24	chr19:35661200-35666000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:35661400-35664000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:35661400-35667000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:35661600-35663800	Weak transcription	Gastric	stomach
28	chr19:35661600-35666600	Weak transcription	NHEK	skin
29	chr19:35661800-35663600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:35661800-35664800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr19:35661800-35666000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr19:35661800-35666200	Weak transcription	Placenta	Placenta
33	chr19:35661800-35666800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr19:35661800-35666800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr19:35661800-35666800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:35661800-35666800	Weak transcription	NHLF	lung
37	chr19:35661800-35668600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr19:35661800-35670000	Weak transcription	Thymus	Thymus
39	chr19:35661800-35673400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:35662000-35665000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr19:35662000-35666800	Weak transcription	HMEC	breast
42	chr19:35662400-35663800	Enhancers	Primary hematopoietic stem cells	blood
43	chr19:35662400-35664000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:35662400-35664800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr19:35662400-35664800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:35662600-35663600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr19:35662600-35664000	Enhancers	Primary T cells from cord blood	blood
48	chr19:35662600-35664000	Enhancers	Primary T cells fromperipheralblood	blood
49	chr19:35662600-35664000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr19:35662600-35664000	Enhancers	Primary T helper cells PMA-I stimulated	--

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