Variant report

Variant	rs7596703
Chromosome Location	chr2:63813310-63813311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:63812159..63813845-chr2:63813874..63816684,2	MCF-7	breast:
2	chr2:63802150..63804372-chr2:63812471..63815243,3	K562	blood:

Variant related genes	Relation type
ENSG00000143951	Chromatin interaction
ENSG00000014641	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10153822	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10167957	1.00[EUR][1000 genomes]
rs10175007	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10175463	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10200556	1.00[AMR][1000 genomes]
rs10202649	0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11885358	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11893294	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11896034	1.00[EUR][1000 genomes]
rs11900991	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13390106	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13408481	1.00[EUR][1000 genomes]
rs13411288	0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13415780	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13419067	0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13421646	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13424973	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35012898	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61361027	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6748271	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6753773	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73934731	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73937816	1.00[EUR][1000 genomes]
rs73937817	1.00[EUR][1000 genomes]
rs7607974	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9309355	0.96[YRI][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	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv1792289	chr2:63812148-63900292	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63780200-63814800	Weak transcription	Psoas Muscle	Psoas
2	chr2:63801000-63814400	Weak transcription	Primary B cells from cord blood	blood
3	chr2:63803600-63813400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:63806000-63813600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:63806200-63813600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:63806200-63814000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:63806400-63813400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:63806400-63813400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:63808600-63813800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:63808600-63814200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:63808800-63813600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:63808800-63814800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:63809000-63813600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:63809000-63813800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:63809000-63813800	Weak transcription	Brain Substantia Nigra	brain
16	chr2:63809000-63814200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:63809000-63814200	Weak transcription	Osteobl	bone
18	chr2:63809200-63813400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:63809200-63813600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:63809200-63813600	Weak transcription	Liver	Liver
21	chr2:63809200-63813600	Weak transcription	NHEK	skin
22	chr2:63809200-63813800	Weak transcription	Brain Anterior Caudate	brain
23	chr2:63809200-63813800	Weak transcription	Right Atrium	heart
24	chr2:63809200-63814000	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:63809200-63814000	Weak transcription	NHDF-Ad	bronchial
26	chr2:63809200-63814200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:63809200-63814200	Weak transcription	Adipose Nuclei	Adipose
28	chr2:63809200-63814200	Weak transcription	Right Ventricle	heart
29	chr2:63809200-63814600	Weak transcription	Stomach Mucosa	stomach
30	chr2:63809200-63814800	Weak transcription	Left Ventricle	heart
31	chr2:63809400-63814200	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:63809800-63813400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:63809800-63813800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:63809800-63814400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:63809800-63814800	Weak transcription	Thymus	Thymus
36	chr2:63810000-63813400	Weak transcription	Fetal Heart	heart
37	chr2:63810400-63814200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:63811200-63813600	Weak transcription	K562	blood
39	chr2:63811800-63814600	Weak transcription	Fetal Stomach	stomach
40	chr2:63812400-63813600	Enhancers	Dnd41	blood
41	chr2:63813000-63817800	Active TSS	H1 Cell Line	embryonic stem cell
42	chr2:63813200-63813400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr2:63813200-63813400	Active TSS	GM12878-XiMat	blood
44	chr2:63813200-63813600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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