Variant report

Variant	rs34689785
Chromosome Location	chr15:59193940-59193941
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	POLR2A	chr15:59193771-59193962	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59062764..59064503-chr15:59191462..59194303,2	K562	blood:
2	chr15:59191313..59194345-chr15:59224453..59227290,3	K562	blood:

Variant related genes	Relation type
SLTM	TF binding region
ENSG00000128923	Chromatin interaction
ENSG00000137776	Chromatin interaction
ENSG00000245975	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12909653	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17302066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28696981	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28715195	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35869999	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs953204	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	87 gene(s)	inside rSNPs	diseases
2	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	44 gene(s)	inside rSNPs	diseases
3	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv904270	chr15:59140329-59238415	Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer 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	48 gene(s)	inside rSNPs	diseases
6	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats 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	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59167800-59194000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr15:59168200-59202200	Strong transcription	Fetal Thymus	thymus
3	chr15:59168400-59206600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr15:59168400-59209600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr15:59168600-59195800	Strong transcription	Dnd41	blood
6	chr15:59168600-59202400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:59168600-59209800	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr15:59168600-59220000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr15:59169000-59209800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr15:59169000-59210600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:59169200-59195000	Strong transcription	Duodenum Mucosa	Duodenum
12	chr15:59169200-59223200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:59169400-59210000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr15:59169400-59211800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:59170000-59194000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:59170000-59194000	Strong transcription	Liver	Liver
17	chr15:59170000-59209400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr15:59170200-59194200	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr15:59170200-59194600	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr15:59170200-59210000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:59170400-59194000	Strong transcription	Primary B cells from cord blood	blood
22	chr15:59170800-59224200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr15:59171200-59200200	Strong transcription	Placenta	Placenta
24	chr15:59176800-59194200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:59176800-59194600	Strong transcription	HSMM	muscle
26	chr15:59177000-59194600	Strong transcription	Primary hematopoietic stem cells	blood
27	chr15:59179800-59224200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr15:59180800-59195000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr15:59180800-59216400	Weak transcription	Stomach Mucosa	stomach
30	chr15:59182200-59224200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:59187000-59199000	Weak transcription	Psoas Muscle	Psoas
32	chr15:59191200-59194200	Strong transcription	HepG2	liver
33	chr15:59191800-59194000	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr15:59192000-59194400	Weak transcription	Fetal Intestine Small	intestine
35	chr15:59192200-59223400	Weak transcription	Right Ventricle	heart
36	chr15:59192600-59198600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr15:59192600-59199600	Weak transcription	Esophagus	oesophagus
38	chr15:59192600-59205800	Weak transcription	Colon Smooth Muscle	Colon
39	chr15:59192600-59223400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr15:59192800-59194400	Weak transcription	Fetal Stomach	stomach
41	chr15:59192800-59196200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:59192800-59198400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr15:59192800-59198800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr15:59192800-59201000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr15:59192800-59221200	Weak transcription	Small Intestine	intestine
46	chr15:59192800-59223200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr15:59192800-59224200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr15:59193000-59194400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr15:59193000-59194400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr15:59193000-59194400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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