Variant report

Variant	rs1704397
Chromosome Location	chr15:42211992-42211993
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	chr15:42210672-42212000	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:42211803-42213732	HUVEC	blood vessel:	n/a	n/a
3	MAFK	chr15:42211903-42212120	HepG2	liver:	n/a	chr15:42212059-42212073 chr15:42212060-42212075 chr15:42212060-42212076 chr15:42212061-42212072 chr15:42212060-42212071 chr15:42212060-42212071 chr15:42212061-42212072
4	POLR2A	chr15:42209758-42212774	GM12892	blood:	n/a	n/a
5	POLR2A	chr15:42210611-42212076	GM12892	blood:	n/a	n/a
6	POLR2A	chr15:42209786-42212072	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:42210650-42212167	GM12891	blood:	n/a	n/a
8	MAFF	chr15:42211970-42212132	HepG2	liver:	n/a	chr15:42212058-42212076
9	POLR2A	chr15:42209705-42212218	GM12892	blood:	n/a	n/a
10	POLR2A	chr15:42210630-42212143	GM12891	blood:	n/a	n/a
11	POLR2A	chr15:42210704-42212101	GM12891	blood:	n/a	n/a
12	MAFK	chr15:42211973-42212177	HepG2	liver:	n/a	chr15:42212059-42212073 chr15:42212060-42212075 chr15:42212060-42212076 chr15:42212061-42212072 chr15:42212060-42212071 chr15:42212060-42212071 chr15:42212061-42212072

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42202438..42205069-chr15:42210826..42212891,2	MCF-7	breast:
2	chr15:42207550..42209850-chr15:42209914..42212582,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259883	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1025226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1030418	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1648821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648822	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];1.00[ASN][1000 genomes]
rs16972234	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16972243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16972244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16972246	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1704395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2899033	1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2899034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55637254	0.89[ASN][1000 genomes]
rs56008456	0.82[ASN][1000 genomes]
rs56379301	0.89[ASN][1000 genomes]
rs61753871	0.90[ASN][1000 genomes]
rs73408579	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8034110	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv427958	chr15:42051317-42301283	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv904116	chr15:42076387-42229852	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
4	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
5	nsv1038933	chr15:42138456-42309087	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
6	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
7	nsv1054728	chr15:42177772-42310009	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv976926	chr15:42202094-42217599	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42190400-42218600	Weak transcription	Fetal Lung	lung
2	chr15:42197200-42218600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr15:42197400-42218600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr15:42198200-42212000	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr15:42198800-42212000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr15:42199000-42212600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr15:42201200-42225400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:42202200-42218400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr15:42202200-42218600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr15:42202200-42225200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:42204000-42217600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:42204200-42212000	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr15:42208200-42212000	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr15:42208200-42212000	Strong transcription	Primary T cells from cord blood	blood
15	chr15:42208200-42212000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr15:42208200-42212000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr15:42208400-42212000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:42208400-42212000	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr15:42208400-42212000	Genic enhancers	Fetal Muscle Leg	muscle
20	chr15:42208400-42212000	Genic enhancers	Lung	lung
21	chr15:42208400-42212800	Genic enhancers	Placenta	Placenta
22	chr15:42208400-42214400	Enhancers	Right Atrium	heart
23	chr15:42208400-42214800	Enhancers	Ovary	ovary
24	chr15:42208400-42218800	Genic enhancers	HUVEC	blood vessel
25	chr15:42209200-42212000	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr15:42209200-42218000	Weak transcription	Fetal Thymus	thymus
27	chr15:42209600-42213800	Genic enhancers	Fetal Intestine Small	intestine
28	chr15:42209800-42212000	Genic enhancers	NHLF	lung
29	chr15:42209800-42212400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr15:42209800-42212800	Genic enhancers	Spleen	Spleen
31	chr15:42209800-42216000	Strong transcription	GM12878-XiMat	blood
32	chr15:42210000-42212000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr15:42210000-42212000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:42210000-42212000	Strong transcription	Colonic Mucosa	Colon
35	chr15:42210000-42212000	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr15:42210000-42212000	Genic enhancers	Gastric	stomach
37	chr15:42210000-42214400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr15:42210200-42212000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr15:42210200-42216000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr15:42210400-42212000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:42210400-42212000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr15:42210400-42213600	Weak transcription	Brain Anterior Caudate	brain
43	chr15:42210400-42213800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:42210400-42218400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr15:42210600-42212200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:42210600-42213200	Weak transcription	Brain Substantia Nigra	brain
47	chr15:42210600-42214400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr15:42210600-42218400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:42210600-42225400	Weak transcription	K562	blood
50	chr15:42210800-42212400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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