Variant report

Variant	rs13391864
Chromosome Location	chr2:234362816-234362817
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:234362263-234363075	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:234360801..234363275-chr2:234364556..234366918,3	K562	blood:
2	chr2:234356800..234359439-chr2:234362085..234364639,4	MCF-7	breast:
3	chr2:234361502..234363996-chr2:234822105..234824849,2	MCF-7	breast:
4	chr2:234360801..234364452-chr2:234364556..234366918,5	K562	blood:

Variant related genes	Relation type
DGKD	TF binding region
ENSG00000077044	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10168794	0.87[CEU][hapmap];0.88[YRI][hapmap]
rs10169180	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10178357	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10181039	0.88[EUR][1000 genomes]
rs10183033	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10185923	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10193542	0.87[CEU][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs10803653	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10929195	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1097930	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1097931	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs11888993	0.93[EUR][1000 genomes]
rs11892545	0.87[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs11897617	0.82[ASN][1000 genomes]
rs1220430	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12473824	1.00[CHB][hapmap]
rs12615446	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs13384932	0.87[CEU][hapmap]
rs13392183	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs13393578	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13400471	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13400563	1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs13403169	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs13406462	1.00[JPT][hapmap]
rs13406655	1.00[JPT][hapmap]
rs13414407	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.88[TSI][hapmap];0.94[YRI][hapmap];0.88[EUR][1000 genomes]
rs13419277	0.88[EUR][1000 genomes]
rs13425849	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1453321	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1470864	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs1545525	0.82[JPT][hapmap]
rs1597940	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2167884	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2167885	0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs2305541	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2602387	1.00[CHB][hapmap]
rs2602389	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2603545	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2603547	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs28444082	0.88[EUR][1000 genomes]
rs28506837	0.88[EUR][1000 genomes]
rs28588417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2924809	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs2924811	0.87[ASN][1000 genomes]
rs2924813	1.00[ASN][1000 genomes]
rs2971862	0.87[ASN][1000 genomes]
rs2971863	1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs2971864	0.87[ASN][1000 genomes]
rs2971865	0.85[LWK][hapmap];0.92[MKK][hapmap]
rs2971867	0.87[ASN][1000 genomes]
rs2971869	1.00[ASN][1000 genomes]
rs2971870	0.96[ASN][1000 genomes]
rs2971871	0.98[ASN][1000 genomes]
rs2971872	0.98[ASN][1000 genomes]
rs3762591	0.88[EUR][1000 genomes]
rs59458664	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6710645	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6713866	0.85[EUR][1000 genomes]
rs6745134	0.87[CEU][hapmap]
rs6753062	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6756068	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs73117507	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73117551	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73117559	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7422734	0.87[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.94[YRI][hapmap]
rs7571288	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7572257	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs7578898	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7583771	0.84[CHD][hapmap]
rs7724	1.00[ASN][1000 genomes]
rs838543	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs838544	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs838548	1.00[CHB][hapmap]
rs838549	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs838550	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs838551	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs838552	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs838555	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs838559	0.85[ASN][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	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234339600-234394200	Weak transcription	HUVEC	blood vessel
3	chr2:234339800-234391400	Weak transcription	NHDF-Ad	bronchial
4	chr2:234343000-234393000	Strong transcription	Primary T cells from cord blood	blood
5	chr2:234343000-234402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:234343200-234383000	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:234343400-234368800	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:234344000-234366200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:234344000-234382000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:234344200-234382000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:234344200-234382200	Strong transcription	Primary B cells from cord blood	blood
12	chr2:234344200-234382600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr2:234344400-234381600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:234346600-234375000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:234348000-234370800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:234348400-234363400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:234350200-234377600	Strong transcription	Left Ventricle	heart
18	chr2:234350400-234374400	Strong transcription	Fetal Intestine Large	intestine
19	chr2:234352000-234367400	Strong transcription	Primary hematopoietic stem cells	blood
20	chr2:234352400-234368800	Strong transcription	Colonic Mucosa	Colon
21	chr2:234352400-234380800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:234352400-234382000	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:234352600-234368800	Strong transcription	Duodenum Mucosa	Duodenum
24	chr2:234352600-234369000	Strong transcription	Brain Anterior Caudate	brain
25	chr2:234352600-234373600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:234352600-234380800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:234352600-234380800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:234352600-234381400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:234352600-234381600	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr2:234352600-234381800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr2:234352600-234382600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr2:234352600-234382600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:234352800-234382000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:234353000-234364600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:234353000-234369000	Strong transcription	Brain Hippocampus Middle	brain
36	chr2:234353000-234378000	Strong transcription	Rectal Smooth Muscle	rectum
37	chr2:234353200-234369800	Strong transcription	Right Ventricle	heart
38	chr2:234353400-234368600	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:234353400-234373600	Strong transcription	Aorta	Aorta
40	chr2:234353400-234379600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr2:234353400-234381600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:234353600-234373800	Strong transcription	Dnd41	blood
43	chr2:234353600-234381800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr2:234353800-234372600	Strong transcription	Placenta	Placenta
45	chr2:234353800-234378000	Strong transcription	Fetal Stomach	stomach
46	chr2:234354000-234369200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:234354000-234373800	Strong transcription	Fetal Brain Female	brain
48	chr2:234354000-234377800	Weak transcription	Fetal Heart	heart
49	chr2:234354000-234381600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:234354200-234373400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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