Variant report

Variant	rs6706372
Chromosome Location	chr2:54815320-54815321
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54783987..54787753-chr2:54814113..54820814,10	K562	blood:
2	chr2:54800828..54802394-chr2:54814892..54816682,2	K562	blood:
3	chr2:54815292..54817560-chr2:54840163..54841990,2	K562	blood:
4	chr2:54814029..54817875-chr2:54846911..54850562,3	K562	blood:
5	chr2:54790537..54793498-chr2:54814882..54817196,2	MCF-7	breast:
6	chr2:54815000..54820095-chr2:54820709..54825309,10	K562	blood:
7	chr2:54783797..54785815-chr2:54814403..54816719,2	K562	blood:
8	chr2:54811733..54813663-chr2:54814407..54817316,2	MCF-7	breast:
9	chr2:54764181..54766561-chr2:54813594..54815881,2	K562	blood:
10	chr2:54815022..54818519-chr2:54825874..54828742,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115306	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10180713	0.95[CEU][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1047499	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11885703	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11892788	0.91[CEU][hapmap];0.94[EUR][1000 genomes]
rs12104998	0.81[CEU][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs12105792	0.81[CEU][hapmap];0.89[EUR][1000 genomes]
rs12467581	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12468469	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12617036	0.87[EUR][1000 genomes]
rs12624153	0.95[CHB][hapmap]
rs12713260	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13016942	0.86[CEU][hapmap];0.91[EUR][1000 genomes]
rs1367295	0.81[CEU][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs1510611	0.82[JPT][hapmap]
rs1541854	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs168506	0.81[EUR][1000 genomes]
rs171350	0.83[EUR][1000 genomes]
rs17344072	0.86[CEU][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes]
rs17521078	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs1802889	1.00[YRI][hapmap]
rs1864493	0.86[CEU][hapmap];0.89[EUR][1000 genomes]
rs2048371	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2271322	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2292356	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2292357	0.91[EUR][1000 genomes]
rs2931463	0.86[EUR][1000 genomes]
rs2931464	0.86[EUR][1000 genomes]
rs2941583	0.86[EUR][1000 genomes]
rs2941586	1.00[CEU][hapmap];0.83[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2941587	1.00[CEU][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2941591	0.86[EUR][1000 genomes]
rs2941595	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2971875	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2971877	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2971879	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2971883	0.87[EUR][1000 genomes]
rs2971887	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3106204	0.87[EUR][1000 genomes]
rs354213	0.84[EUR][1000 genomes]
rs354226	0.81[EUR][1000 genomes]
rs354228	0.84[EUR][1000 genomes]
rs354231	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3796014	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4233952	0.82[EUR][1000 genomes]
rs4444573	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4455199	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4514917	0.80[EUR][1000 genomes]
rs4519562	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4592889	0.88[EUR][1000 genomes]
rs4671221	1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs4671222	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs4671225	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs4671226	0.90[EUR][1000 genomes]
rs4671945	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs4671946	0.87[EUR][1000 genomes]
rs4671947	0.87[EUR][1000 genomes]
rs4671949	0.89[EUR][1000 genomes]
rs4671951	0.86[CEU][hapmap];0.89[EUR][1000 genomes]
rs4671955	0.85[EUR][1000 genomes]
rs4671956	0.86[CEU][hapmap];0.91[EUR][1000 genomes]
rs4671960	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4671961	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4990319	0.87[EUR][1000 genomes]
rs6545411	0.82[EUR][1000 genomes]
rs6545413	0.82[EUR][1000 genomes]
rs6545414	0.82[EUR][1000 genomes]
rs6545415	0.82[EUR][1000 genomes]
rs6545418	0.83[EUR][1000 genomes]
rs6545419	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs6545427	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs6545429	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs6545434	1.00[CEU][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6704769	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs6724590	0.83[EUR][1000 genomes]
rs6729826	0.87[EUR][1000 genomes]
rs6731661	0.95[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6732949	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6734658	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6735813	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6742607	0.81[EUR][1000 genomes]
rs6746306	0.83[EUR][1000 genomes]
rs6748816	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6760298	0.82[JPT][hapmap]
rs6761369	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs6761398	0.81[CEU][hapmap];0.89[EUR][1000 genomes]
rs7558950	0.89[EUR][1000 genomes]
rs7563706	0.83[EUR][1000 genomes]
rs7589236	0.89[EUR][1000 genomes]
rs7598568	0.94[ASN][1000 genomes]
rs7607451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs907135	0.95[CEU][hapmap];0.90[EUR][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	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54802000-54816400	Enhancers	Liver	Liver
2	chr2:54802200-54822600	Weak transcription	Esophagus	oesophagus
3	chr2:54804000-54822400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:54805400-54815800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:54805400-54830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:54805600-54819800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:54807000-54826000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:54807200-54815800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:54807200-54816400	Weak transcription	Aorta	Aorta
10	chr2:54807200-54819800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:54807800-54816200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:54807800-54818800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr2:54808400-54816800	Enhancers	Brain Anterior Caudate	brain
14	chr2:54808800-54815800	Weak transcription	Placenta	Placenta
15	chr2:54808800-54822800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:54809400-54815600	Weak transcription	Fetal Kidney	kidney
17	chr2:54809400-54816200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:54809400-54816400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:54809400-54816400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:54809400-54816400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr2:54809400-54821600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr2:54809600-54815600	Weak transcription	Gastric	stomach
23	chr2:54809600-54816200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr2:54809600-54825800	Weak transcription	Brain Germinal Matrix	brain
25	chr2:54810000-54816400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr2:54810400-54815800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:54810400-54816400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:54810600-54815600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:54810800-54815400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:54810800-54815600	Weak transcription	Colonic Mucosa	Colon
31	chr2:54811000-54815600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:54811000-54815800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:54811200-54816400	Enhancers	Hela-S3	cervix
34	chr2:54811400-54816400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:54811400-54816400	Enhancers	Fetal Thymus	thymus
36	chr2:54811400-54817200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:54811400-54819400	Enhancers	Stomach Mucosa	stomach
38	chr2:54811600-54818400	Enhancers	Brain Substantia Nigra	brain
39	chr2:54811600-54819200	Enhancers	Fetal Heart	heart
40	chr2:54811800-54816200	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr2:54811800-54816600	Enhancers	Left Ventricle	heart
42	chr2:54811800-54818800	Enhancers	Brain Hippocampus Middle	brain
43	chr2:54812000-54816400	Enhancers	Primary T cells fromperipheralblood	blood
44	chr2:54812200-54815400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:54812600-54815600	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:54812800-54816200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:54813000-54815600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr2:54813200-54817800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr2:54813200-54818000	Enhancers	Brain Cingulate Gyrus	brain
50	chr2:54813400-54815600	Enhancers	Muscle Satellite Cultured Cells	--

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