Variant report

Variant	rs1607448
Chromosome Location	chr2:86721687-86721688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86720517..86722121-chr2:86723212..86725706,2	K562	blood:
2	chr2:86716552..86718952-chr2:86720243..86722913,2	MCF-7	breast:
3	chr2:86720341..86722407-chr2:86724543..86726613,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10179968	1.00[AMR][1000 genomes]
rs10192729	1.00[AMR][1000 genomes]
rs10496321	1.00[AMR][1000 genomes]
rs13394211	1.00[AMR][1000 genomes]
rs13427212	1.00[AMR][1000 genomes]
rs17027161	1.00[AMR][1000 genomes]
rs55645731	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56301854	1.00[AMR][1000 genomes]
rs58382371	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59520922	1.00[AMR][1000 genomes]
rs60391171	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6721311	0.83[AMR][1000 genomes]
rs73945284	1.00[AMR][1000 genomes]
rs73945285	1.00[AMR][1000 genomes]
rs73945286	1.00[AMR][1000 genomes]
rs73945298	1.00[AMR][1000 genomes]
rs73945300	1.00[AMR][1000 genomes]
rs73946205	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73946210	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73946213	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73946224	1.00[AMR][1000 genomes]
rs73947226	1.00[AMR][1000 genomes]
rs73949508	1.00[AMR][1000 genomes]
rs73949836	1.00[AMR][1000 genomes]
rs73949841	1.00[AMR][1000 genomes]
rs73949843	0.83[AMR][1000 genomes]
rs7600275	1.00[AMR][1000 genomes]
rs7609052	0.83[AMR][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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86671000-86725600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:86671400-86722600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:86671400-86725600	Strong transcription	A549	lung
4	chr2:86671600-86723600	Strong transcription	Fetal Thymus	thymus
5	chr2:86671600-86726000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:86671800-86726600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:86672600-86724200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:86674200-86726800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:86676400-86722600	Strong transcription	GM12878-XiMat	blood
10	chr2:86676600-86727200	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:86679600-86721800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:86679800-86757000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:86680200-86722200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:86681600-86722600	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:86681600-86727000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr2:86682000-86726600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:86682200-86726200	Strong transcription	Fetal Lung	lung
18	chr2:86684000-86726000	Strong transcription	Duodenum Mucosa	Duodenum
19	chr2:86690200-86723200	Strong transcription	Primary B cells from cord blood	blood
20	chr2:86696000-86727000	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr2:86697200-86724600	Strong transcription	Dnd41	blood
22	chr2:86697600-86723000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:86697600-86727200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:86697800-86728800	Strong transcription	Primary T cells from cord blood	blood
25	chr2:86699400-86727000	Strong transcription	Placenta	Placenta
26	chr2:86701000-86725600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:86704600-86723000	Strong transcription	Fetal Kidney	kidney
28	chr2:86704800-86726400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:86704800-86726600	Strong transcription	NHDF-Ad	bronchial
30	chr2:86706000-86724400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:86708800-86726600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:86709200-86726600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:86709200-86737400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:86709800-86725600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:86710200-86722400	Strong transcription	Adipose Nuclei	Adipose
36	chr2:86712800-86726600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:86713400-86727400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:86716200-86724600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:86716600-86725200	Weak transcription	Aorta	Aorta
40	chr2:86717000-86724400	Weak transcription	Fetal Brain Male	brain
41	chr2:86717200-86722000	Weak transcription	Small Intestine	intestine
42	chr2:86717200-86726600	Weak transcription	Pancreas	Pancrea
43	chr2:86717400-86726600	Weak transcription	Stomach Mucosa	stomach
44	chr2:86718000-86723800	Weak transcription	Brain Germinal Matrix	brain
45	chr2:86718200-86722200	Weak transcription	Fetal Stomach	stomach
46	chr2:86718400-86724200	Weak transcription	Colonic Mucosa	Colon
47	chr2:86718600-86725200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:86718800-86724400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:86718800-86724400	Weak transcription	Brain Angular Gyrus	brain
50	chr2:86718800-86726600	Weak transcription	Gastric	stomach

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