Variant report

Variant	rs11746611
Chromosome Location	chr5:74024873-74024874
allele	A/G
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	chr5:74024698-74024889	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr5:74024645-74025213	K562	blood:	n/a	n/a
3	POLR2A	chr5:74024857-74024906	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74018853..74021864-chr5:74023433..74025995,4	K562	blood:
2	chr5:74022416..74025189-chr5:74034895..74036734,2	K562	blood:

Variant related genes	Relation type
RNU6-658P	TF binding region
ENSG00000207336	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10062244	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs10515189	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]
rs10515190	0.86[AFR][1000 genomes]
rs10515191	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs11556477	0.81[ASN][1000 genomes]
rs11739122	0.83[JPT][hapmap]
rs11739301	0.83[JPT][hapmap]
rs11740871	0.83[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap]
rs11741464	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11742621	0.84[CHB][hapmap]
rs11743415	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11743655	0.84[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs11746069	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11746717	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11746757	0.84[CHB][hapmap]
rs11747965	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs11948188	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs1531103	0.83[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap]
rs16872346	0.83[JPT][hapmap]
rs17670605	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17670701	0.83[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17670867	0.83[CEU][hapmap];0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs17670897	0.89[CEU][hapmap];0.80[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs17670975	0.83[CEU][hapmap];0.82[JPT][hapmap]
rs17738111	0.89[CEU][hapmap];0.80[CHB][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17738266	0.81[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs17738565	0.89[CEU][hapmap];0.80[CHB][hapmap];0.83[JPT][hapmap]
rs17738645	0.89[CEU][hapmap];0.80[CHB][hapmap];0.83[JPT][hapmap]
rs17738674	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs17852781	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1992712	0.83[CEU][hapmap]
rs1993370	0.83[JPT][hapmap]
rs2044410	0.83[JPT][hapmap]
rs2084119	0.81[ASN][1000 genomes]
rs2314936	0.82[ASN][1000 genomes]
rs2314937	0.82[ASN][1000 genomes]
rs3733794	0.83[JPT][hapmap]
rs3932895	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3968877	0.90[CEU][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55870102	0.82[ASN][1000 genomes]
rs56365996	0.82[ASN][1000 genomes]
rs59110717	0.82[ASN][1000 genomes]
rs61093699	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62366366	0.82[EUR][1000 genomes]
rs62366371	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62366373	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62366375	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366376	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366406	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62366408	0.80[ASN][1000 genomes]
rs62366413	0.81[ASN][1000 genomes]
rs62366415	0.81[ASN][1000 genomes]
rs62366416	0.81[ASN][1000 genomes]
rs62366418	0.81[ASN][1000 genomes]
rs62366419	0.81[ASN][1000 genomes]
rs62366420	0.81[ASN][1000 genomes]
rs62366421	0.81[ASN][1000 genomes]
rs6453075	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs6453077	0.84[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	0.87[AFR][1000 genomes]
rs72764640	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs820825	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs820827	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs820828	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs820830	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs820832	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs820833	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs820834	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs820835	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[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	chr5:73983000-74027000	Weak transcription	Fetal Heart	heart
3	chr5:73983200-74030200	Weak transcription	Small Intestine	intestine
4	chr5:73999800-74060800	Weak transcription	Pancreas	Pancrea
5	chr5:73999800-74062200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:74002600-74030800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:74002600-74031800	Weak transcription	Esophagus	oesophagus
8	chr5:74002600-74041200	Weak transcription	Colonic Mucosa	Colon
9	chr5:74002600-74051600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:74002600-74061800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:74008400-74028800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:74008400-74036200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:74008400-74047800	Strong transcription	Placenta	Placenta
14	chr5:74008400-74060200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr5:74008400-74060200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr5:74008600-74044200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:74008800-74035200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:74008800-74036000	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr5:74010000-74036200	Strong transcription	Liver	Liver
20	chr5:74010200-74036000	Strong transcription	Duodenum Mucosa	Duodenum
21	chr5:74010200-74038200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:74010200-74048000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:74010400-74036400	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr5:74010400-74059600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:74011200-74044200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr5:74011400-74036800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:74012000-74051600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:74012200-74050400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr5:74012600-74027400	Strong transcription	Left Ventricle	heart
30	chr5:74012600-74027600	Strong transcription	Dnd41	blood
31	chr5:74012600-74034800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr5:74012800-74036200	Strong transcription	Fetal Intestine Large	intestine
33	chr5:74013000-74027800	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:74013400-74027200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:74013400-74047400	Strong transcription	Adipose Nuclei	Adipose
36	chr5:74013600-74028800	Strong transcription	HSMM	muscle
37	chr5:74014400-74047800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:74014400-74051600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:74014600-74025000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:74015200-74048600	Weak transcription	Stomach Mucosa	stomach
41	chr5:74016000-74027400	Strong transcription	Fetal Muscle Leg	muscle
42	chr5:74016400-74052400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:74016600-74026400	Weak transcription	Lung	lung
44	chr5:74016600-74026800	Weak transcription	Fetal Intestine Small	intestine
45	chr5:74018000-74039600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr5:74018000-74060800	Weak transcription	Gastric	stomach
47	chr5:74018200-74027000	Weak transcription	NHEK	skin
48	chr5:74018200-74030600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr5:74018200-74036200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:74018600-74025800	Weak transcription	Brain Germinal Matrix	brain

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