Variant report

Variant	rs562938637
Chromosome Location	chr15:83712142-83712143
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	POLR2A	chr15:83711959-83712286	GM12891	blood:	n/a	n/a
2	POLR2A	chr15:83711724-83712378	K562	blood:	n/a	n/a
3	POLR2A	chr15:83711802-83712741	GM12892	blood:	n/a	n/a
4	POLR2A	chr15:83711902-83712259	K562	blood:	n/a	n/a
5	POLR2A	chr15:83711857-83712360	GM12878	blood:	n/a	n/a
6	POLR2A	chr15:83711971-83712318	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr15:83711586-83712251	GM12892	blood:	n/a	n/a
8	POLR2A	chr15:83711700-83712200	GM12891	blood:	n/a	n/a
9	POLR2A	chr15:83711408-83712348	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:83712080-83712223	K562	blood:	n/a	n/a
11	POLR2A	chr15:83711771-83712386	HepG2	liver:	n/a	n/a
12	POLR2A	chr15:83711486-83712886	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:83678705..83681278-chr15:83710767..83712606,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259308	TF binding region
BTBD1	TF binding region
ENSG00000169609	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040336	chr15:83578947-83768335	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv482308	chr15:83584918-83747362	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers 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	36 gene(s)	inside rSNPs	diseases
3	nsv977749	chr15:83710730-83714630	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83681600-83732000	Weak transcription	Stomach Mucosa	stomach
2	chr15:83683000-83723000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:83683400-83726600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:83695400-83714600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:83695800-83715400	Weak transcription	HSMMtube	muscle
6	chr15:83697800-83721000	Strong transcription	Fetal Intestine Large	intestine
7	chr15:83699000-83715800	Weak transcription	Brain Substantia Nigra	brain
8	chr15:83699000-83716800	Weak transcription	Aorta	Aorta
9	chr15:83699000-83725800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:83700400-83734400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr15:83701600-83732800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:83705000-83720800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:83705000-83725800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr15:83705000-83731000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr15:83705200-83715000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:83705200-83720000	Strong transcription	Dnd41	blood
17	chr15:83705600-83712200	Weak transcription	NHDF-Ad	bronchial
18	chr15:83705600-83714400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr15:83705600-83721400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:83706000-83725400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:83706600-83718000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr15:83706800-83712600	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr15:83706800-83713400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:83706800-83726600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr15:83707000-83725400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr15:83707400-83712600	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr15:83707400-83712800	Strong transcription	HepG2	liver
28	chr15:83707400-83713000	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr15:83707400-83713400	Strong transcription	Fetal Thymus	thymus
30	chr15:83707400-83718400	Strong transcription	Fetal Muscle Leg	muscle
31	chr15:83707400-83725400	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr15:83707800-83719200	Strong transcription	GM12878-XiMat	blood
33	chr15:83708000-83713400	Strong transcription	Adipose Nuclei	Adipose
34	chr15:83708000-83713600	Strong transcription	Duodenum Mucosa	Duodenum
35	chr15:83708000-83718000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr15:83708000-83718200	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr15:83708000-83722000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr15:83708000-83725400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr15:83708200-83712600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:83708200-83713400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr15:83708200-83713400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr15:83708200-83713800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr15:83708200-83714200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:83708200-83714400	Strong transcription	Fetal Intestine Small	intestine
45	chr15:83708200-83714400	Strong transcription	Fetal Stomach	stomach
46	chr15:83708600-83712600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr15:83708600-83712600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr15:83708600-83713600	Strong transcription	A549	lung
49	chr15:83708600-83715400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:83708600-83719800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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