Variant report

Variant	rs10207062
Chromosome Location	chr2:209120967-209120968
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:209120960-209121110	GM12873	blood:	n/a	n/a
2	MYBL2	chr2:209118259-209121792	HepG2	liver:	n/a	n/a
3	CTCF	chr2:209120960-209121110	GM12870	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:209117138..209121626-chr2:209129108..209132782,7	MCF-7	breast:
2	chr2:209119923..209123053-chr2:209129009..209130826,3	MCF-7	breast:
3	chr2:209116323..209122695-chr2:209127326..209132568,14	K562	blood:
4	chr2:209116323..209123332-chr2:209127326..209134005,17	K562	blood:
5	chr2:209118313..209121811-chr2:209130870..209135068,6	MCF-7	breast:

No data

Variant related genes	Relation type
IDH1	TF binding region
ENSG00000115020	Chromatin interaction
ENSG00000138413	Chromatin interaction
ENSG00000228380	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12694110	0.82[CHB][hapmap]
rs13388119	0.89[AFR][1000 genomes]
rs13399978	0.89[AFR][1000 genomes]
rs1437410	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17652774	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17698897	0.89[AFR][1000 genomes]
rs4673402	0.82[CHB][hapmap]
rs6728530	0.82[CHB][hapmap]
rs6746926	0.85[CEU][hapmap];0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs7566681	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209120200-209121000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:209120400-209121000	Enhancers	Stomach Mucosa	stomach
3	chr2:209120400-209121200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:209120400-209122000	Weak transcription	Aorta	Aorta
5	chr2:209120400-209122400	Active TSS	HepG2	liver
6	chr2:209120400-209123200	Enhancers	Fetal Heart	heart
7	chr2:209120600-209121000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:209120600-209121000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:209120600-209121000	Enhancers	Primary B cells from cord blood	blood
10	chr2:209120600-209121000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:209120600-209121000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr2:209120600-209121200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:209120600-209121200	Enhancers	Primary B cells from peripheral blood	blood
14	chr2:209120600-209121200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr2:209120600-209121200	Enhancers	Brain Substantia Nigra	brain
16	chr2:209120600-209121200	Enhancers	Left Ventricle	heart
17	chr2:209120600-209121600	Weak transcription	Right Ventricle	heart
18	chr2:209120600-209121800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:209120600-209121800	Weak transcription	Pancreas	Pancrea
20	chr2:209120600-209122000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:209120600-209122000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:209120600-209122000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:209120600-209122000	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:209120600-209122000	Weak transcription	Fetal Lung	lung
25	chr2:209120600-209122000	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:209120600-209122000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr2:209120600-209122400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:209120600-209122600	Enhancers	Brain Angular Gyrus	brain
29	chr2:209120600-209122800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:209120600-209122800	Enhancers	Liver	Liver
31	chr2:209120600-209122800	Enhancers	Fetal Intestine Small	intestine
32	chr2:209120600-209123000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr2:209120800-209121000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr2:209120800-209121000	Enhancers	Dnd41	blood
35	chr2:209120800-209121200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:209120800-209121200	Enhancers	NHEK	skin
37	chr2:209120800-209121400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:209120800-209121400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:209120800-209121400	Weak transcription	Fetal Stomach	stomach
40	chr2:209120800-209121400	Enhancers	GM12878-XiMat	blood
41	chr2:209120800-209121600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:209120800-209121800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:209120800-209121800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:209120800-209121800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:209120800-209121800	Weak transcription	Fetal Kidney	kidney
46	chr2:209120800-209121800	Weak transcription	K562	blood
47	chr2:209120800-209122000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:209120800-209122000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:209120800-209122000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:209120800-209122000	Weak transcription	Brain Cingulate Gyrus	brain

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