Variant report

Variant	rs10515189
Chromosome Location	chr5:74020029-74020030
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74015011..74017827-chr5:74019863..74023018,4	K562	blood:

Variant related genes	Relation type
ENSG00000049860	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10062244	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs10515190	0.81[YRI][hapmap]
rs10515191	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs11556477	0.82[ASN][1000 genomes]
rs11739122	0.83[JPT][hapmap]
rs11739301	0.83[JPT][hapmap]
rs11740871	0.91[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap]
rs11741464	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11743415	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11743655	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs11746069	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11746611	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11746717	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11747965	0.82[JPT][hapmap]
rs11948188	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs1531103	0.91[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap]
rs16872346	0.83[JPT][hapmap]
rs17670605	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17670701	0.91[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17670867	0.91[CEU][hapmap];0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs17670897	0.90[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs17670975	0.91[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap]
rs17738111	0.90[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17738266	0.91[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs17738565	0.90[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap]
rs17738645	0.90[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap]
rs17738674	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs17852781	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1979014	0.81[YRI][hapmap]
rs1992712	0.91[CEU][hapmap]
rs1993370	0.83[JPT][hapmap]
rs2044410	0.83[JPT][hapmap]
rs2084119	0.82[ASN][1000 genomes]
rs2314936	0.81[ASN][1000 genomes]
rs2314937	0.81[ASN][1000 genomes]
rs3733794	0.83[JPT][hapmap]
rs3932895	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3968877	0.91[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55870102	0.81[ASN][1000 genomes]
rs56365996	0.81[ASN][1000 genomes]
rs59110717	0.81[ASN][1000 genomes]
rs61093699	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62366366	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62366371	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62366373	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62366375	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62366376	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62366406	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62366413	0.82[ASN][1000 genomes]
rs62366415	0.82[ASN][1000 genomes]
rs62366416	0.82[ASN][1000 genomes]
rs62366418	0.82[ASN][1000 genomes]
rs62366419	0.82[ASN][1000 genomes]
rs62366420	0.82[ASN][1000 genomes]
rs62366421	0.82[ASN][1000 genomes]
rs6453075	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs6453077	0.83[ASN][1000 genomes]
rs6453084	0.83[JPT][hapmap]
rs6453086	0.83[JPT][hapmap]
rs6453087	0.82[JPT][hapmap]
rs6866082	0.83[JPT][hapmap]
rs6874609	0.83[JPT][hapmap]
rs6877116	0.82[JPT][hapmap]
rs6883061	0.83[JPT][hapmap]
rs6884843	0.83[JPT][hapmap]
rs6885675	0.88[JPT][hapmap]
rs6897850	0.80[AFR][1000 genomes]
rs72764640	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs820825	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs820827	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs820828	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs820830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs820832	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs820833	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs820834	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs820835	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9686657	0.83[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598653	chr5:73992881-74095542	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS 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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:73982000-74061800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:73982200-74020600	Weak transcription	Fetal Brain Male	brain
3	chr5:73983000-74027000	Weak transcription	Fetal Heart	heart
4	chr5:73983200-74030200	Weak transcription	Small Intestine	intestine
5	chr5:73988400-74021000	Weak transcription	Right Ventricle	heart
6	chr5:73999800-74060800	Weak transcription	Pancreas	Pancrea
7	chr5:73999800-74062200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:74002600-74030800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:74002600-74031800	Weak transcription	Esophagus	oesophagus
10	chr5:74002600-74041200	Weak transcription	Colonic Mucosa	Colon
11	chr5:74002600-74051600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:74002600-74061800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:74008400-74028800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:74008400-74036200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:74008400-74047800	Strong transcription	Placenta	Placenta
16	chr5:74008400-74060200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr5:74008400-74060200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr5:74008600-74044200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:74008800-74035200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:74008800-74036000	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr5:74009800-74022200	Strong transcription	HMEC	breast
22	chr5:74010000-74036200	Strong transcription	Liver	Liver
23	chr5:74010200-74022200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr5:74010200-74036000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr5:74010200-74038200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:74010200-74048000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:74010400-74036400	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr5:74010400-74059600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:74011200-74022200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr5:74011200-74044200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr5:74011400-74036800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:74011800-74022400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:74012000-74022000	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:74012000-74051600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:74012200-74050400	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr5:74012600-74023000	Strong transcription	Primary T cells from cord blood	blood
37	chr5:74012600-74023200	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr5:74012600-74027400	Strong transcription	Left Ventricle	heart
39	chr5:74012600-74027600	Strong transcription	Dnd41	blood
40	chr5:74012600-74034800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr5:74012800-74036200	Strong transcription	Fetal Intestine Large	intestine
42	chr5:74013000-74021600	Strong transcription	Fetal Thymus	thymus
43	chr5:74013000-74022000	Strong transcription	GM12878-XiMat	blood
44	chr5:74013000-74027800	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:74013400-74027200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:74013400-74047400	Strong transcription	Adipose Nuclei	Adipose
47	chr5:74013600-74022000	Strong transcription	K562	blood
48	chr5:74013600-74022600	Strong transcription	A549	lung
49	chr5:74013600-74028800	Strong transcription	HSMM	muscle
50	chr5:74013800-74021800	Strong transcription	NHDF-Ad	bronchial

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