Variant report

Variant	rs11947375
Chromosome Location	chr4:86851308-86851309
allele	A/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	POLR2A	chr4:86851156-86851348	A549	lung:	n/a	n/a
2	TCF12	chr4:86850133-86851698	A549	lung:	n/a	chr4:86850792-86850801 chr4:86851083-86851090
3	ZNF263	chr4:86850742-86851519	HEK293-T-REx	kidney:	n/a	chr4:86851178-86851187 chr4:86851331-86851340 chr4:86851172-86851193
4	POLR2A	chr4:86851155-86851356	A549	lung:	n/a	n/a
5	TBP	chr4:86851163-86851388	H1-hESC	embryonic stem cell:	n/a	n/a
6	TEAD4	chr4:86851115-86851417	H1-hESC	embryonic stem cell:	n/a	n/a
7	TAF1	chr4:86851051-86851466	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr4:86851100-86851403	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr4:86851108-86851365	A549	lung:	n/a	n/a
10	POLR2A	chr4:86851166-86851342	HUVEC	blood vessel:	n/a	n/a
11	ZNF143	chr4:86851160-86851370	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr4:86851104-86851379	A549	lung:	n/a	n/a

Variant related genes	Relation type
ARHGAP24	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17011217	0.82[AFR][1000 genomes]
rs72976253	0.82[AFR][1000 genomes]

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	nsv830000	chr4:86745341-86909059	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv879519	chr4:86786204-86871282	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv879520	chr4:86829529-86918232	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86843200-86852400	Weak transcription	Esophagus	oesophagus
2	chr4:86844400-86853800	Weak transcription	Gastric	stomach
3	chr4:86847000-86853200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:86848400-86851400	Enhancers	Primary B cells from peripheral blood	blood
5	chr4:86848600-86856000	Weak transcription	Primary B cells from cord blood	blood
6	chr4:86849200-86851400	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr4:86849200-86851800	Enhancers	Primary hematopoietic stem cells	blood
8	chr4:86849200-86851800	Enhancers	NHDF-Ad	bronchial
9	chr4:86849600-86851600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:86849600-86852800	Enhancers	Fetal Thymus	thymus
11	chr4:86849800-86851400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:86849800-86851400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr4:86849800-86851400	Enhancers	Lung	lung
14	chr4:86849800-86851400	Enhancers	Osteobl	bone
15	chr4:86849800-86851600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:86849800-86851600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr4:86849800-86853400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:86850000-86851400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr4:86850000-86851400	Enhancers	HMEC	breast
20	chr4:86850000-86851400	Enhancers	HSMMtube	muscle
21	chr4:86850000-86851600	Enhancers	NHLF	lung
22	chr4:86850000-86852200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:86850000-86852200	Enhancers	Small Intestine	intestine
24	chr4:86850000-86852600	Enhancers	Fetal Muscle Leg	muscle
25	chr4:86850000-86853800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:86850200-86851600	Active TSS	A549	lung
27	chr4:86850200-86851800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr4:86850400-86851400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:86850400-86851600	Enhancers	Primary T cells from cord blood	blood
30	chr4:86850400-86851600	Enhancers	Fetal Heart	heart
31	chr4:86850400-86851600	Flanking Active TSS	HepG2	liver
32	chr4:86850400-86852200	Flanking Active TSS	Liver	Liver
33	chr4:86850400-86854400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr4:86850600-86851400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:86850600-86851400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:86850600-86851400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:86850600-86851400	Enhancers	Stomach Smooth Muscle	stomach
38	chr4:86850600-86851400	Enhancers	Spleen	Spleen
39	chr4:86850600-86851600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr4:86850600-86851600	Flanking Active TSS	Dnd41	blood
41	chr4:86850600-86853000	Enhancers	Left Ventricle	heart
42	chr4:86850800-86851400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr4:86850800-86851400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr4:86850800-86851400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:86850800-86851400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr4:86850800-86851600	Active TSS	Rectal Smooth Muscle	rectum
47	chr4:86850800-86851800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:86850800-86854000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:86850800-86854200	Active TSS	Fetal Kidney	kidney
50	chr4:86851000-86851400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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