Variant report

Variant	rs11749318
Chromosome Location	chr5:75722669-75722670
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	chr5:75717306..75720750-chr5:75722224..75725340,4	K562	blood:
2	chr5:75697668..75699734-chr5:75720568..75722803,2	K562	blood:

Variant related genes	Relation type
ENSG00000145703	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10043040	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10044351	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10044370	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10044373	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10065322	0.91[EUR][1000 genomes]
rs10068074	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10068404	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10068651	0.96[CEU][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10070688	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10072221	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10073228	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10073282	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10073382	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10073448	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10077372	0.88[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10079393	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10213849	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10462539	0.89[EUR][1000 genomes]
rs10462540	0.90[EUR][1000 genomes]
rs11738470	0.89[EUR][1000 genomes]
rs11740038	0.85[CEU][hapmap];0.80[TSI][hapmap];0.86[EUR][1000 genomes]
rs11741153	0.81[CHB][hapmap];0.85[CHD][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs11743541	0.96[CEU][hapmap];0.85[CHB][hapmap];0.81[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11744637	0.91[EUR][1000 genomes]
rs11747990	0.91[EUR][1000 genomes]
rs12523532	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13175420	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13357820	0.89[EUR][1000 genomes]
rs28386181	0.90[EUR][1000 genomes]
rs3886042	0.90[EUR][1000 genomes]
rs3886043	0.85[CEU][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.90[EUR][1000 genomes]
rs4130148	0.80[JPT][hapmap]
rs4254886	0.91[EUR][1000 genomes]
rs4615280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55995866	0.90[EUR][1000 genomes]
rs56189196	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59428516	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60570368	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6453217	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs6865628	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6887962	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6895725	0.89[EUR][1000 genomes]
rs7706078	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7706926	0.85[CEU][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes]
rs7707426	0.91[EUR][1000 genomes]
rs7717110	0.81[CHB][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs7718320	0.80[JPT][hapmap]
rs7718641	0.91[EUR][1000 genomes]
rs7731240	0.91[EUR][1000 genomes]
rs7732454	0.80[JPT][hapmap];0.80[ASN][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	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv882206	chr5:75676658-75746813	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75703000-75731800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:75703600-75747000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr5:75707000-75727600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:75709800-75727200	Weak transcription	Primary B cells from cord blood	blood
5	chr5:75711000-75733600	Weak transcription	Thymus	Thymus
6	chr5:75718400-75725800	Weak transcription	HepG2	liver
7	chr5:75718600-75723600	Weak transcription	Small Intestine	intestine
8	chr5:75719200-75724800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:75720400-75722800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr5:75720400-75722800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr5:75720400-75722800	Enhancers	Liver	Liver
12	chr5:75720400-75723200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:75720400-75724000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:75720400-75724000	Enhancers	Placenta	Placenta
15	chr5:75720400-75724200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:75720400-75724200	Enhancers	Primary hematopoietic stem cells	blood
17	chr5:75720600-75723000	Enhancers	Pancreas	Pancrea
18	chr5:75720600-75723800	Enhancers	Fetal Muscle Leg	muscle
19	chr5:75720600-75724000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:75720600-75724200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr5:75720600-75724200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr5:75720600-75724200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:75720800-75723000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr5:75720800-75724200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:75720800-75724200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:75720800-75724200	Enhancers	Gastric	stomach
27	chr5:75720800-75724400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr5:75721000-75730200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:75721200-75723400	Enhancers	Fetal Brain Female	brain
30	chr5:75721400-75723000	Enhancers	Lung	lung
31	chr5:75721600-75722800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr5:75721600-75723000	Enhancers	Fetal Stomach	stomach
33	chr5:75721600-75723400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr5:75721600-75723800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:75721600-75724000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr5:75721800-75723000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr5:75721800-75723000	Weak transcription	Primary T cells from cord blood	blood
38	chr5:75721800-75723000	Enhancers	Fetal Heart	heart
39	chr5:75721800-75723800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr5:75721800-75723800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr5:75721800-75727200	Weak transcription	GM12878-XiMat	blood
42	chr5:75722000-75723000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr5:75722000-75723000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:75722000-75723400	Enhancers	Brain Germinal Matrix	brain
45	chr5:75722000-75723400	Enhancers	Fetal Muscle Trunk	muscle
46	chr5:75722000-75723600	Enhancers	Fetal Lung	lung
47	chr5:75722000-75724000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:75722000-75724200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr5:75722000-75725800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr5:75722000-75728400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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