Variant report

Variant	rs74011153
Chromosome Location	chr15:40731168-40731169
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:40728064-40734370	K562	blood:	n/a	n/a
2	POLR2A	chr15:40730936-40733250	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr15:40730497-40732956	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40697680..40700101-chr15:40729674..40731814,2	MCF-7	breast:
2	chr15:40729975..40738939-chr15:40745780..40750666,13	K562	blood:
3	chr15:40618049..40622052-chr15:40729021..40731269,3	K562	blood:
4	chr15:40729710..40731654-chr15:40849849..40851885,2	MCF-7	breast:
5	chr15:40619456..40622052-chr15:40729021..40731269,2	K562	blood:
6	chr15:40730539..40734458-chr15:40797952..40800684,3	K562	blood:

No data

Variant related genes	Relation type
BAHD1	TF binding region
ENSG00000259536	Chromatin interaction
ENSG00000128928	Chromatin interaction
ENSG00000140320	Chromatin interaction
ENSG00000259364	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55904487	1.00[AMR][1000 genomes]
rs57094441	1.00[AMR][1000 genomes]
rs59636068	1.00[AMR][1000 genomes]
rs60397708	1.00[AMR][1000 genomes]
rs7164303	1.00[AMR][1000 genomes]
rs74011146	1.00[AMR][1000 genomes]
rs74011152	1.00[AMR][1000 genomes]
rs74013054	1.00[AMR][1000 genomes]
rs74013056	1.00[AMR][1000 genomes]
rs8040294	1.00[AMR][1000 genomes]
rs8041445	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40728400-40732000	Flanking Active TSS	K562	blood
2	chr15:40728800-40731400	Enhancers	Gastric	stomach
3	chr15:40729200-40731400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr15:40729200-40731800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr15:40729200-40731800	Bivalent Enhancer	Placenta	Placenta
6	chr15:40729200-40731800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr15:40729200-40732200	Bivalent Enhancer	Fetal Lung	lung
8	chr15:40729400-40731800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr15:40729400-40731800	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr15:40729400-40732000	Enhancers	Fetal Heart	heart
11	chr15:40729400-40732000	Weak transcription	Right Atrium	heart
12	chr15:40729600-40731400	Enhancers	Brain Angular Gyrus	brain
13	chr15:40729600-40731600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:40729600-40731600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr15:40729600-40731800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr15:40729600-40732000	Weak transcription	Lung	lung
17	chr15:40729800-40731800	Weak transcription	Brain Substantia Nigra	brain
18	chr15:40729800-40732000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr15:40730000-40731400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:40730000-40732000	Enhancers	Colonic Mucosa	Colon
21	chr15:40730200-40731400	Weak transcription	Brain Anterior Caudate	brain
22	chr15:40730200-40731400	Weak transcription	A549	lung
23	chr15:40730400-40731400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr15:40730400-40731800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr15:40730400-40731800	Weak transcription	Spleen	Spleen
26	chr15:40730600-40731400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:40730600-40731600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr15:40730600-40731600	Weak transcription	Esophagus	oesophagus
29	chr15:40730600-40731600	Enhancers	Pancreas	Pancrea
30	chr15:40730600-40731800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr15:40730600-40731800	Enhancers	Ovary	ovary
32	chr15:40730600-40732000	Enhancers	Right Ventricle	heart
33	chr15:40730800-40731200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
34	chr15:40730800-40731200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:40730800-40731400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr15:40730800-40731400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr15:40730800-40731600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr15:40730800-40731600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:40730800-40731600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr15:40730800-40731600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr15:40730800-40731600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
42	chr15:40730800-40731600	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr15:40730800-40732400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr15:40731000-40731200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
45	chr15:40731000-40731200	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr15:40731000-40731200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
47	chr15:40731000-40731200	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr15:40731000-40731200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr15:40731000-40731400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr15:40731000-40731400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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