Variant report

Variant	rs10206713
Chromosome Location	chr2:47520065-47520066
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47509605..47512629-chr2:47518106..47521337,3	K562	blood:
2	chr2:47401553..47405076-chr2:47518464..47521103,4	K562	blood:
3	chr2:47509605..47513477-chr2:47518467..47523163,4	K562	blood:
4	chr2:47402255..47405076-chr2:47517612..47520184,2	K562	blood:
5	chr2:47401702..47403771-chr2:47518885..47520517,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10204202	1.00[YRI][hapmap]
rs13383554	1.00[YRI][hapmap]
rs13386635	1.00[YRI][hapmap]
rs13412502	1.00[YRI][hapmap]
rs13413278	1.00[YRI][hapmap]
rs13414080	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv457385	chr2:47468331-47552277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv581755	chr2:47468331-47552277	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47512000-47522400	Weak transcription	Brain Substantia Nigra	brain
2	chr2:47512200-47522400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:47512200-47523000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:47515000-47527400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:47515200-47523400	Enhancers	A549	lung
6	chr2:47515200-47528400	Weak transcription	HepG2	liver
7	chr2:47515400-47522400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:47516400-47521000	Weak transcription	Stomach Mucosa	stomach
9	chr2:47516600-47520600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:47516600-47525400	Weak transcription	Adipose Nuclei	Adipose
11	chr2:47517400-47520800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:47517400-47520800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr2:47517600-47520600	Weak transcription	NH-A	brain
14	chr2:47517600-47522400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:47517600-47524200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:47517600-47525200	Weak transcription	NHDF-Ad	bronchial
17	chr2:47517600-47530400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:47517800-47521000	Weak transcription	Placenta	Placenta
19	chr2:47517800-47521000	Weak transcription	HSMMtube	muscle
20	chr2:47517800-47526600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:47518000-47521200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:47519000-47522600	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:47519200-47520800	Weak transcription	Fetal Intestine Large	intestine
24	chr2:47519800-47521000	Weak transcription	Fetal Intestine Small	intestine
25	chr2:47519800-47527200	Weak transcription	Brain Germinal Matrix	brain
26	chr2:47519800-47537200	Weak transcription	Fetal Stomach	stomach

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