Variant report

Variant	rs10200146
Chromosome Location	chr2:63819348-63819349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:63817828-63820253	K562	blood:	n/a	n/a
2	POLR2A	chr2:63818181-63819537	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:63818719..63820235-chr2:63820348..63821885,2	MCF-7	breast:
2	chr2:63814652..63820726-chr2:63822860..63830564,18	K562	blood:
3	chr2:63814544..63817562-chr2:63819288..63824360,10	K562	blood:
4	chr2:63815935..63817710-chr2:63818424..63820016,3	MCF-7	breast:
5	chr2:63815568..63817310-chr2:63819288..63820984,2	K562	blood:

No data

Variant related genes	Relation type
MDH1	TF binding region
WDPCP	TF binding region
ENSG00000143951	Chromatin interaction
ENSG00000014641	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10164844	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10171190	0.93[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap]
rs10191163	0.86[EUR][1000 genomes]
rs10209490	0.89[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap]
rs10211360	0.80[CEU][hapmap];0.81[JPT][hapmap]
rs1022351	0.93[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap]
rs1022353	0.89[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap]
rs10496102	0.81[JPT][hapmap]
rs1109963	0.89[YRI][hapmap]
rs11125979	0.81[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs11676682	0.85[CHB][hapmap]
rs11684973	0.82[AFR][1000 genomes]
rs11687234	0.93[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap]
rs11688997	0.82[AFR][1000 genomes]
rs12104978	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12464471	0.86[JPT][hapmap]
rs12470121	0.89[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap]
rs12470478	0.81[JPT][hapmap]
rs12478262	0.96[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap]
rs12713497	0.80[JPT][hapmap]
rs12995715	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs13003009	0.82[AFR][1000 genomes]
rs13025357	0.85[ASW][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes]
rs13409031	0.89[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap]
rs13422170	0.93[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap]
rs1446568	0.89[YRI][hapmap]
rs1568174	0.93[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap]
rs169035	0.86[ASN][1000 genomes]
rs17618390	0.87[JPT][hapmap]
rs1869700	0.88[ASN][1000 genomes]
rs1878505	0.81[CHB][hapmap]
rs2028886	0.81[CHB][hapmap]
rs2034270	0.82[CHB][hapmap]
rs2138791	0.89[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap]
rs2166498	0.89[YRI][hapmap]
rs2168274	0.94[JPT][hapmap]
rs2178678	0.96[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap]
rs2278718	0.87[JPT][hapmap]
rs2421891	0.92[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap]
rs2421892	0.89[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap]
rs2421954	0.90[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2422008	0.85[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs262496	0.86[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs262497	0.85[ASN][1000 genomes]
rs262498	0.89[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs262499	0.86[ASN][1000 genomes]
rs262500	0.86[ASN][1000 genomes]
rs2901581	0.89[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap]
rs33977056	0.85[ASW][hapmap];0.88[YRI][hapmap]
rs34763417	0.82[AFR][1000 genomes]
rs3754540	0.81[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs4671061	0.89[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap]
rs4671501	0.96[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap]
rs4671502	0.96[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap]
rs4671506	0.92[CEU][hapmap];0.94[JPT][hapmap]
rs4671507	0.93[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs4671511	0.83[ASN][1000 genomes]
rs4671528	0.80[JPT][hapmap]
rs6546003	0.96[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap]
rs6710451	0.80[AFR][1000 genomes]
rs6731136	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs6731877	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67356044	0.80[AFR][1000 genomes]
rs6735907	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6737621	0.86[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs6741298	0.80[JPT][hapmap]
rs6741584	0.81[JPT][hapmap]
rs6756850	0.82[ASN][1000 genomes]
rs67696856	0.80[AFR][1000 genomes]
rs67752811	0.82[AFR][1000 genomes]
rs7591566	0.82[AFR][1000 genomes]
rs7598973	0.82[CHB][hapmap]
rs8179835	0.85[CHB][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63814200-63820000	Active TSS	Right Ventricle	heart
2	chr2:63816600-63830200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:63816800-63831000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:63817000-63819400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:63817000-63820400	Weak transcription	Ovary	ovary
6	chr2:63817000-63827000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:63817000-63827000	Weak transcription	Spleen	Spleen
8	chr2:63817000-63827400	Weak transcription	Lung	lung
9	chr2:63817000-63828800	Weak transcription	Pancreas	Pancrea
10	chr2:63817000-63830200	Weak transcription	Esophagus	oesophagus
11	chr2:63817000-63831800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:63817200-63819600	Enhancers	Fetal Intestine Small	intestine
13	chr2:63817200-63819600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:63817200-63819600	Weak transcription	Fetal Stomach	stomach
15	chr2:63817200-63819800	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:63817200-63820400	Weak transcription	Fetal Lung	lung
17	chr2:63817200-63820400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:63817200-63821200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:63817200-63823400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:63817200-63828000	Weak transcription	Aorta	Aorta
21	chr2:63817200-63834400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:63817400-63819400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:63817400-63820600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:63817400-63821600	Weak transcription	Fetal Kidney	kidney
25	chr2:63817400-63821800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:63817400-63831600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:63817600-63819400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:63817600-63819600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:63817600-63820600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr2:63817600-63820600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr2:63817600-63821200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr2:63817600-63821600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:63817600-63828600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr2:63817800-63819600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
35	chr2:63817800-63819800	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:63817800-63820600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:63818000-63819400	Enhancers	Brain Hippocampus Middle	brain
38	chr2:63818000-63819600	Active TSS	Left Ventricle	heart
39	chr2:63818000-63820600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:63818000-63821200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:63818000-63821200	Weak transcription	HSMM	muscle
42	chr2:63818000-63822000	Weak transcription	Brain Substantia Nigra	brain
43	chr2:63818000-63822000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr2:63818000-63822400	Weak transcription	Thymus	Thymus
45	chr2:63818000-63834800	Strong transcription	Fetal Thymus	thymus
46	chr2:63818000-63835400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:63818200-63820600	Weak transcription	Placenta	Placenta
48	chr2:63818400-63819400	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:63818400-63820000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:63818400-63820400	Weak transcription	Primary B cells from peripheral blood	blood

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