Variant report

Variant	rs567402486
Chromosome Location	chr15:40746270-40746271
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	SPI1	chr15:40746163-40746416	GM12878	blood:	n/a	n/a
2	CEBPB	chr15:40745991-40746276	IMR90	lung:	n/a	chr15:40746122-40746133
3	SPI1	chr15:40746142-40746513	GM12891	blood:	n/a	n/a
4	ELF1	chr15:40746159-40746392	K562	blood:	n/a	n/a
5	EBF1	chr15:40746163-40746473	GM12878	blood:	n/a	n/a
6	POLR2A	chr15:40746249-40746551	H1-hESC	embryonic stem cell:	n/a	n/a
7	PAX5	chr15:40746219-40746481	GM12878	blood:	n/a	chr15:40746320-40746329
8	POLR2A	chr15:40746189-40746636	GM12878	blood:	n/a	n/a
9	EBF1	chr15:40746155-40746542	GM12878	blood:	n/a	n/a
10	RUNX3	chr15:40746086-40746439	GM12878	blood:	n/a	n/a
11	RUNX3	chr15:40746150-40746409	GM12878	blood:	n/a	n/a
12	CEBPB	chr15:40746017-40746286	K562	blood:	n/a	chr15:40746122-40746133
13	POLR2A	chr15:40746268-40746527	GM12878	blood:	n/a	n/a
14	SPI1	chr15:40746239-40746371	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40674267..40676664-chr15:40743987..40746424,2	MCF-7	breast:
2	chr15:40729975..40738939-chr15:40745780..40750666,13	K562	blood:
3	chr15:40732284..40734448-chr15:40743962..40746615,2	MCF-7	breast:
4	chr15:40746042..40747567-chr15:40761663..40764195,2	MCF-7	breast:

Variant related genes	Relation type
BAHD1	TF binding region
ENSG00000140320	Chromatin interaction
ENSG00000169105	Chromatin interaction
ENSG00000128944	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv3428108	chr15:40744855-40746413	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40734800-40746400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:40734800-40747000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr15:40734800-40751000	Weak transcription	Aorta	Aorta
4	chr15:40735000-40746600	Weak transcription	HSMM	muscle
5	chr15:40735200-40747800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr15:40736800-40748600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr15:40738000-40750400	Weak transcription	Brain Germinal Matrix	brain
8	chr15:40738200-40746600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr15:40738200-40746800	Weak transcription	Adipose Nuclei	Adipose
10	chr15:40738200-40747000	Weak transcription	Fetal Muscle Leg	muscle
11	chr15:40738200-40751000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr15:40738400-40746800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:40738400-40747000	Weak transcription	Colon Smooth Muscle	Colon
14	chr15:40738400-40747200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:40738600-40746400	Weak transcription	NHEK	skin
16	chr15:40738600-40746800	Weak transcription	NHLF	lung
17	chr15:40738800-40746800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr15:40740600-40749600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr15:40741200-40747800	Enhancers	K562	blood
20	chr15:40741400-40746400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:40741600-40746600	Weak transcription	A549	lung
22	chr15:40741800-40746600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:40741800-40746600	Weak transcription	NH-A	brain
24	chr15:40741800-40746600	Weak transcription	NHDF-Ad	bronchial
25	chr15:40741800-40746600	Weak transcription	Osteobl	bone
26	chr15:40742200-40747800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr15:40742200-40749200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr15:40742200-40749600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr15:40742400-40762200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr15:40742600-40747000	Enhancers	Dnd41	blood
31	chr15:40742600-40749400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr15:40742600-40750000	Enhancers	Fetal Intestine Large	intestine
33	chr15:40742800-40746600	Weak transcription	Fetal Stomach	stomach
34	chr15:40742800-40746600	Weak transcription	Psoas Muscle	Psoas
35	chr15:40742800-40749600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr15:40742800-40750000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr15:40743000-40746600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr15:40743200-40746600	Enhancers	Fetal Intestine Small	intestine
39	chr15:40743400-40747400	Enhancers	Thymus	Thymus
40	chr15:40743400-40748000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:40743400-40749200	Enhancers	Fetal Thymus	thymus
42	chr15:40743600-40747800	Enhancers	Primary B cells from peripheral blood	blood
43	chr15:40743600-40749400	Enhancers	Spleen	Spleen
44	chr15:40743800-40747200	Weak transcription	Brain Anterior Caudate	brain
45	chr15:40743800-40748600	Weak transcription	Brain Substantia Nigra	brain
46	chr15:40744000-40746800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr15:40744000-40747200	Enhancers	Primary B cells from cord blood	blood
48	chr15:40744000-40750000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:40744200-40756400	Weak transcription	Fetal Kidney	kidney
50	chr15:40744400-40746400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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