Variant report

Variant	rs670107
Chromosome Location	chr15:40746953-40746954
allele	C/G
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	FOSL2	chr15:40746929-40747670	SK-N-SH	brain:	n/a	chr15:40747220-40747227 chr15:40747595-40747606 chr15:40747219-40747230 chr15:40747220-40747229
2	SMARCB1	chr15:40746869-40747766	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr15:40746909-40747896	IMR90	lung:	n/a	n/a
4	POLR2A	chr15:40746946-40747114	K562	blood:	n/a	n/a
5	SMARCC1	chr15:40746846-40747859	Hela-S3	cervix:	n/a	n/a
6	JUND	chr15:40746922-40747688	SK-N-SH	brain:	n/a	chr15:40747220-40747227 chr15:40747595-40747606 chr15:40747219-40747230 chr15:40747220-40747229
7	JUN	chr15:40746747-40747844	K562	blood:	n/a	chr15:40747220-40747227 chr15:40747595-40747606 chr15:40747219-40747230 chr15:40747220-40747229

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40729975..40738939-chr15:40745780..40750666,13	K562	blood:
2	chr15:40746042..40747567-chr15:40761663..40764195,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259364	TF binding region
BAHD1	TF binding region
ENSG00000169105	Chromatin interaction
ENSG00000140320	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2470620	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2470621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2959540	1.00[AMR][1000 genomes]
rs6492950	1.00[AMR][1000 genomes]
rs659443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7178426	1.00[AMR][1000 genomes]
rs73309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs930768	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40734800-40747000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr15:40734800-40751000	Weak transcription	Aorta	Aorta
3	chr15:40735200-40747800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr15:40736800-40748600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr15:40738000-40750400	Weak transcription	Brain Germinal Matrix	brain
6	chr15:40738200-40747000	Weak transcription	Fetal Muscle Leg	muscle
7	chr15:40738200-40751000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr15:40738400-40747000	Weak transcription	Colon Smooth Muscle	Colon
9	chr15:40738400-40747200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr15:40740600-40749600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr15:40741200-40747800	Enhancers	K562	blood
12	chr15:40742200-40747800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:40742200-40749200	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr15:40742200-40749600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:40742400-40762200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr15:40742600-40747000	Enhancers	Dnd41	blood
17	chr15:40742600-40749400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr15:40742600-40750000	Enhancers	Fetal Intestine Large	intestine
19	chr15:40742800-40749600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:40742800-40750000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr15:40743400-40747400	Enhancers	Thymus	Thymus
22	chr15:40743400-40748000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:40743400-40749200	Enhancers	Fetal Thymus	thymus
24	chr15:40743600-40747800	Enhancers	Primary B cells from peripheral blood	blood
25	chr15:40743600-40749400	Enhancers	Spleen	Spleen
26	chr15:40743800-40747200	Weak transcription	Brain Anterior Caudate	brain
27	chr15:40743800-40748600	Weak transcription	Brain Substantia Nigra	brain
28	chr15:40744000-40747200	Enhancers	Primary B cells from cord blood	blood
29	chr15:40744000-40750000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:40744200-40756400	Weak transcription	Fetal Kidney	kidney
31	chr15:40744400-40749000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:40744400-40749200	Enhancers	Small Intestine	intestine
33	chr15:40744600-40747200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr15:40744600-40747400	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr15:40744600-40748000	Enhancers	Duodenum Mucosa	Duodenum
36	chr15:40744600-40749600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr15:40744800-40747000	Weak transcription	Ovary	ovary
38	chr15:40744800-40747400	Enhancers	GM12878-XiMat	blood
39	chr15:40744800-40748000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr15:40744800-40749800	Enhancers	HepG2	liver
41	chr15:40745000-40747600	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr15:40745000-40747600	Enhancers	Primary hematopoietic stem cells	blood
43	chr15:40745000-40747800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr15:40745000-40749200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr15:40745000-40751000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr15:40745200-40750400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:40745600-40747200	Enhancers	HMEC	breast
48	chr15:40745600-40747400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr15:40745600-40749000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr15:40745600-40751000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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