Variant report

Variant	rs6724466
Chromosome Location	chr2:173954929-173954930
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	chr2:173954871-173955942	PANC-1	pancreas:	n/a	n/a
2	CTCF	chr2:173954921-173957167	A549	lung:	n/a	chr2:173956633-173956641 chr2:173956244-173956262
3	EP300	chr2:173954746-173955155	GM12878	blood:	n/a	n/a
4	EP300	chr2:173954728-173956491	K562	blood:	n/a	chr2:173955586-173955600 chr2:173955703-173955717

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173954282..173955862-chr2:174218772..174221164,2	K562	blood:

Variant related genes	Relation type
ENSG00000091436	TF binding region
ENSG00000236391	Chromatin interaction
ENSG00000144354	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10490703	1.00[MEX][hapmap]

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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173941600-173955200	Weak transcription	Lung	lung
2	chr2:173941600-173955200	Weak transcription	Pancreas	Pancrea
3	chr2:173941600-173969600	Weak transcription	Spleen	Spleen
4	chr2:173941800-173955200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:173941800-173955200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:173942000-173955200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:173942000-173955400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:173942000-173956000	Weak transcription	Fetal Thymus	thymus
9	chr2:173942600-173956400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:173942800-173955800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr2:173942800-173964600	Weak transcription	HUVEC	blood vessel
12	chr2:173942800-173971400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:173943000-173971200	Weak transcription	HSMMtube	muscle
14	chr2:173943200-173955000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:173943400-173955200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:173943400-173955200	Weak transcription	Dnd41	blood
17	chr2:173943400-173974200	Weak transcription	Fetal Intestine Large	intestine
18	chr2:173943800-173956000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:173945400-173991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:173947000-173955200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:173947600-173955000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:173947600-173955200	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:173947600-173955200	Weak transcription	Gastric	stomach
24	chr2:173947600-173955200	Weak transcription	Right Atrium	heart
25	chr2:173948800-173955400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:173951200-173955000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:173951200-173955200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:173951400-173957400	Weak transcription	Small Intestine	intestine
29	chr2:173951400-173962000	Weak transcription	Brain Substantia Nigra	brain
30	chr2:173951600-173955000	Weak transcription	Fetal Stomach	stomach
31	chr2:173951600-173955200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:173951600-173955200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:173951600-173955200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr2:173951600-173955200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr2:173952000-173955200	Weak transcription	Aorta	Aorta
36	chr2:173952000-173957600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:173952000-173973400	Weak transcription	Hela-S3	cervix
38	chr2:173952200-173955000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:173952200-173955200	Weak transcription	Adipose Nuclei	Adipose
40	chr2:173952200-173955200	Weak transcription	Esophagus	oesophagus
41	chr2:173952200-173955200	Weak transcription	Ovary	ovary
42	chr2:173952200-173955200	Enhancers	Stomach Smooth Muscle	stomach
43	chr2:173952200-173955200	Weak transcription	HSMM	muscle
44	chr2:173952200-173955800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:173952200-173955800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:173952200-173971400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:173952800-173955200	Weak transcription	Right Ventricle	heart
48	chr2:173952800-173958800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr2:173953000-173955200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:173953000-173968000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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