Variant report

Variant	rs2269650
Chromosome Location	chr1:175129691-175129692
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:175127835..175129941-chr1:175131932..175135022,3	K562	blood:
2	chr1:174991534..174994499-chr1:175127289..175129850,2	MCF-7	breast:
3	chr1:175119497..175122069-chr1:175128749..175130315,2	K562	blood:
4	chr1:175124723..175127210-chr1:175127837..175131491,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120333	Chromatin interaction
ENSG00000206659	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1057285	0.85[CHB][hapmap]
rs12084108	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2272784	0.81[GIH][hapmap]
rs2285217	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3753555	0.81[GIH][hapmap]
rs3766685	0.81[GIH][hapmap]
rs3766688	0.81[GIH][hapmap]
rs3766692	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3766694	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs760486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv522101	chr1:175109517-175151183	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv429924	chr1:175110480-175134314	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175120000-175139400	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:175121600-175130800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:175121800-175131200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:175122200-175132800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:175122200-175133400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:175122200-175136600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:175124000-175140400	Weak transcription	Fetal Heart	heart
8	chr1:175124400-175138200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:175124600-175134600	Weak transcription	Small Intestine	intestine
10	chr1:175125000-175132000	Weak transcription	Fetal Lung	lung
11	chr1:175125400-175132400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:175126800-175138200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:175126800-175141800	Strong transcription	Primary B cells from cord blood	blood
14	chr1:175126800-175148800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr1:175127000-175135600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr1:175127000-175136200	Strong transcription	Thymus	Thymus
17	chr1:175127000-175136600	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:175127000-175136600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:175127000-175148400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:175127200-175131400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:175127200-175136200	Strong transcription	Fetal Thymus	thymus
22	chr1:175127200-175137800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:175127200-175139000	Strong transcription	Primary B cells from peripheral blood	blood
24	chr1:175127200-175139000	Strong transcription	Placenta	Placenta
25	chr1:175127200-175139200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:175127200-175147800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:175127400-175129800	Strong transcription	Fetal Muscle Leg	muscle
28	chr1:175127400-175134400	Weak transcription	Brain Substantia Nigra	brain
29	chr1:175127400-175137000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr1:175127400-175139200	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr1:175127400-175144200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:175127400-175149400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr1:175127600-175130600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:175127600-175132400	Strong transcription	Adipose Nuclei	Adipose
35	chr1:175127600-175132600	Strong transcription	Left Ventricle	heart
36	chr1:175127600-175133000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr1:175127600-175136600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:175127600-175136800	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:175127600-175137200	Strong transcription	Pancreas	Pancrea
40	chr1:175127600-175137600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:175127600-175137600	Strong transcription	Liver	Liver
42	chr1:175127600-175140600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:175127800-175130000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:175127800-175132200	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:175127800-175136000	Strong transcription	Lung	lung
46	chr1:175127800-175136400	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:175127800-175139200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:175127800-175140200	Strong transcription	Spleen	Spleen
49	chr1:175128000-175131400	Strong transcription	Primary hematopoietic stem cells	blood
50	chr1:175128200-175129800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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