Variant report

Variant	rs3769206
Chromosome Location	chr2:173946532-173946533
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173944994..173946697-chr2:174012717..174014873,2	MCF-7	breast:
2	chr2:173915241..173916984-chr2:173944173..173946590,2	MCF-7	breast:
3	chr2:173938088..173944133-chr2:173944779..173953152,16	MCF-7	breast:
4	chr2:173945072..173946599-chr2:174032993..174034733,2	K562	blood:
5	chr2:173944303..173947485-chr2:173950137..173953589,4	MCF-7	breast:
6	chr2:173907898..173920360-chr2:173936226..173946823,30	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction
ENSG00000091428	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12465665	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12996371	1.00[CHB][hapmap]
rs16861266	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16861269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16861279	1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16861295	0.94[EUR][1000 genomes]
rs16861304	0.82[CHB][hapmap]
rs16861323	0.94[EUR][1000 genomes]
rs2053964	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2119124	0.85[CHB][hapmap];0.94[EUR][1000 genomes]
rs2289395	0.83[EUR][1000 genomes]
rs3769164	0.81[CHB][hapmap];0.94[EUR][1000 genomes]
rs3769175	0.94[EUR][1000 genomes]
rs3769176	0.82[CHB][hapmap]
rs3769179	0.82[CHB][hapmap]
rs3769183	0.83[CHB][hapmap];0.94[EUR][1000 genomes]
rs3769190	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3769208	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4632313	1.00[CHB][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56676752	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59935415	0.88[EUR][1000 genomes]
rs61032750	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7566222	0.85[CHB][hapmap]
rs7571788	0.94[EUR][1000 genomes]
rs7602751	0.95[CHB][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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173941600-173947200	Weak transcription	Gastric	stomach
2	chr2:173941600-173955200	Weak transcription	Lung	lung
3	chr2:173941600-173955200	Weak transcription	Pancreas	Pancrea
4	chr2:173941600-173969600	Weak transcription	Spleen	Spleen
5	chr2:173941800-173955200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:173941800-173955200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:173942000-173946600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:173942000-173951400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:173942000-173953000	Weak transcription	Stomach Mucosa	stomach
10	chr2:173942000-173955200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:173942000-173955400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:173942000-173956000	Weak transcription	Fetal Thymus	thymus
13	chr2:173942600-173956400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:173942800-173954800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr2:173942800-173955800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:173942800-173964600	Weak transcription	HUVEC	blood vessel
17	chr2:173942800-173971400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:173943000-173971200	Weak transcription	HSMMtube	muscle
19	chr2:173943200-173955000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:173943400-173951200	Weak transcription	Aorta	Aorta
21	chr2:173943400-173955200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:173943400-173955200	Weak transcription	Dnd41	blood
23	chr2:173943400-173974200	Weak transcription	Fetal Intestine Large	intestine
24	chr2:173943600-173947200	Weak transcription	Right Ventricle	heart
25	chr2:173943800-173956000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:173944000-173947000	Weak transcription	K562	blood
27	chr2:173944000-173947400	Weak transcription	Liver	Liver
28	chr2:173944000-173948600	Weak transcription	Adipose Nuclei	Adipose
29	chr2:173944000-173948600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:173944000-173951200	Weak transcription	Fetal Lung	lung
31	chr2:173944600-173946800	Weak transcription	Ovary	ovary
32	chr2:173944600-173947200	Weak transcription	Left Ventricle	heart
33	chr2:173944600-173947200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:173944800-173946600	Weak transcription	Psoas Muscle	Psoas
35	chr2:173944800-173951200	Weak transcription	Fetal Stomach	stomach
36	chr2:173945000-173947600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:173945200-173947000	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:173945200-173947200	Weak transcription	Right Atrium	heart
39	chr2:173945400-173947600	Genic enhancers	A549	lung
40	chr2:173945400-173947800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:173945400-173948400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:173945400-173991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:173945600-173946600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:173945600-173946600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:173945600-173946800	Weak transcription	Fetal Intestine Small	intestine
46	chr2:173945600-173947000	Weak transcription	NHEK	skin
47	chr2:173945600-173947800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:173945600-173949400	Weak transcription	NHLF	lung
49	chr2:173945600-173951200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:173945600-173951200	Weak transcription	Hela-S3	cervix

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