Variant report

Variant	rs1364658
Chromosome Location	chr2:148607808-148607809
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:148600808..148605763-chr2:148607218..148610138,5	K562	blood:
2	chr2:148600808..148604686-chr2:148606929..148611587,8	K562	blood:
3	chr2:148606424..148608489-chr2:148610392..148613809,3	MCF-7	breast:
4	chr2:148600576..148604642-chr2:148604674..148611198,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121989	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs1014064	1.00[CEU][hapmap];0.82[JPT][hapmap];0.99[EUR][1000 genomes]
rs1015096	0.96[CEU][hapmap]
rs1020653	0.85[EUR][1000 genomes]
rs1030317	0.88[EUR][1000 genomes]
rs10460259	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10497024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10803523	0.95[CEU][hapmap];0.96[EUR][1000 genomes]
rs1128919	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11884013	0.87[EUR][1000 genomes]
rs11886876	1.00[CEU][hapmap]
rs11888152	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs11889608	0.97[EUR][1000 genomes]
rs11900506	0.88[CEU][hapmap]
rs11901963	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs11904758	0.97[EUR][1000 genomes]
rs12053113	0.94[EUR][1000 genomes]
rs12053401	0.96[CEU][hapmap]
rs12104822	0.86[EUR][1000 genomes]
rs12463798	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs12464617	0.97[EUR][1000 genomes]
rs12469015	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12469504	0.88[EUR][1000 genomes]
rs12469939	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12472058	0.87[EUR][1000 genomes]
rs12473564	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs12475399	0.87[EUR][1000 genomes]
rs12479193	0.87[EUR][1000 genomes]
rs12987286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12989250	1.00[CEU][hapmap]
rs12989596	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12990262	0.85[EUR][1000 genomes]
rs12990959	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs12992412	0.87[CEU][hapmap]
rs12997065	0.86[EUR][1000 genomes]
rs12998729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13000597	0.96[EUR][1000 genomes]
rs13004041	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13004451	0.95[EUR][1000 genomes]
rs13005423	0.86[EUR][1000 genomes]
rs13006184	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13008497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13012311	0.88[EUR][1000 genomes]
rs13013743	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13013867	0.97[EUR][1000 genomes]
rs13014904	0.89[EUR][1000 genomes]
rs13014926	0.87[EUR][1000 genomes]
rs13016083	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13017754	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13019386	0.90[EUR][1000 genomes]
rs13019809	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs13021605	1.00[CEU][hapmap]
rs13021972	0.81[EUR][1000 genomes]
rs13022319	0.86[EUR][1000 genomes]
rs13022962	0.96[CEU][hapmap]
rs13025219	0.95[EUR][1000 genomes]
rs13025589	0.97[EUR][1000 genomes]
rs13025701	0.87[EUR][1000 genomes]
rs13026220	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13026650	1.00[CEU][hapmap];0.83[JPT][hapmap];0.95[EUR][1000 genomes]
rs13027200	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13027706	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs13028348	0.96[CEU][hapmap]
rs13028411	0.97[EUR][1000 genomes]
rs13029038	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs13031064	0.90[EUR][1000 genomes]
rs13033589	0.88[EUR][1000 genomes]
rs13033696	1.00[CEU][hapmap];0.83[JPT][hapmap];0.98[EUR][1000 genomes]
rs13034494	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13034561	0.89[EUR][1000 genomes]
rs13034793	0.88[EUR][1000 genomes]
rs1345994	0.91[EUR][1000 genomes]
rs1364660	0.88[EUR][1000 genomes]
rs1424944	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1424946	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1424949	0.87[EUR][1000 genomes]
rs1424954	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1469210	1.00[CEU][hapmap];0.83[JPT][hapmap];0.97[EUR][1000 genomes]
rs1531032	1.00[CEU][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes]
rs1598207	0.91[CEU][hapmap]
rs16855486	0.89[EUR][1000 genomes]
rs1863152	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs1863153	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs1895693	0.96[EUR][1000 genomes]
rs1975748	0.96[CEU][hapmap]
rs1991169	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs2059422	0.89[EUR][1000 genomes]
rs2113793	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs2161983	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs2161984	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs2161985	0.87[EUR][1000 genomes]
rs2288190	0.84[CEU][hapmap]
rs2303392	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs2307394	1.00[CEU][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes]
rs2382201	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs34005843	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34539489	0.90[EUR][1000 genomes]
rs35370215	0.86[EUR][1000 genomes]
rs3764955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3768687	1.00[CEU][hapmap];0.83[JPT][hapmap];0.95[EUR][1000 genomes]
rs3768689	1.00[CEU][hapmap];0.83[JPT][hapmap];0.95[EUR][1000 genomes]
rs3926960	0.80[EUR][1000 genomes]
rs4972272	0.87[EUR][1000 genomes]
rs4972316	0.89[EUR][1000 genomes]
rs4972317	0.88[EUR][1000 genomes]
rs4972318	0.88[EUR][1000 genomes]
rs4972356	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972357	0.95[EUR][1000 genomes]
rs57679331	0.90[EUR][1000 genomes]
rs6430241	0.87[EUR][1000 genomes]
rs6430242	0.87[EUR][1000 genomes]
rs6711673	0.96[CEU][hapmap];0.83[JPT][hapmap];0.96[EUR][1000 genomes]
rs6729465	0.90[EUR][1000 genomes]
rs6729997	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6734998	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs6760703	0.94[EUR][1000 genomes]
rs723681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7559714	0.97[EUR][1000 genomes]
rs7559925	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7594075	0.90[EUR][1000 genomes]
rs7598361	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs7600869	0.87[EUR][1000 genomes]
rs897172	0.96[CEU][hapmap]
rs929939	0.91[CEU][hapmap];0.96[EUR][1000 genomes]
rs9679427	0.87[EUR][1000 genomes]
rs987122	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148604000-148612600	Weak transcription	Gastric	stomach
2	chr2:148604000-148620000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:148604600-148608400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr2:148604600-148608600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:148604600-148608800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:148604600-148610000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:148604600-148610000	Weak transcription	NHDF-Ad	bronchial
8	chr2:148604600-148612400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:148604600-148612400	Weak transcription	Left Ventricle	heart
10	chr2:148604600-148612400	Weak transcription	Right Ventricle	heart
11	chr2:148604600-148612600	Weak transcription	Pancreas	Pancrea
12	chr2:148604600-148614600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:148604600-148616400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:148604600-148617200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:148604600-148617600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:148604600-148617600	Weak transcription	HSMM	muscle
17	chr2:148604800-148608400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:148604800-148609000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:148604800-148612800	Weak transcription	Right Atrium	heart
20	chr2:148605000-148608000	Enhancers	Fetal Brain Male	brain
21	chr2:148605200-148608600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:148605600-148612800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:148605600-148613200	Enhancers	HepG2	liver
24	chr2:148605600-148614600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:148606000-148612200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:148606000-148614200	Weak transcription	Brain Germinal Matrix	brain
27	chr2:148606000-148614600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:148606000-148620800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:148606000-148627600	Weak transcription	Brain Angular Gyrus	brain
30	chr2:148606200-148608400	Weak transcription	HSMMtube	muscle
31	chr2:148606200-148608600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:148606200-148609000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:148606200-148620800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:148606400-148609000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:148607000-148608200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr2:148607200-148608000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:148607200-148608000	Enhancers	Psoas Muscle	Psoas
38	chr2:148607200-148608600	Enhancers	Colon Smooth Muscle	Colon
39	chr2:148607200-148609200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:148607200-148609400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr2:148607200-148609400	Enhancers	Stomach Mucosa	stomach
42	chr2:148607400-148608000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:148607400-148608600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:148607400-148617400	Weak transcription	Fetal Brain Female	brain
45	chr2:148607600-148608000	Enhancers	Ovary	ovary
46	chr2:148607600-148608000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr2:148607600-148608200	Enhancers	Brain Hippocampus Middle	brain
48	chr2:148607600-148608600	Enhancers	Placenta Amnion	Placenta Amnion
49	chr2:148607600-148608800	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr2:148607600-148609000	Enhancers	Adipose Nuclei	Adipose

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