Variant report

Variant	rs11750595
Chromosome Location	chr5:74963600-74963601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:74955921..74958847-chr5:74961478..74964262,3	K562	blood:
2	chr5:74880080..74881244-chr5:74962362..74964218,14	MCF-7	breast:
3	chr5:74956949..74958847-chr5:74961293..74964249,2	K562	blood:
4	chr5:74952495..74955459-chr5:74961686..74963716,2	K562	blood:
5	chr5:74952495..74954524-chr5:74962216..74966504,3	K562	blood:
6	chr5:74735308..74738290-chr5:74961776..74964047,2	K562	blood:
7	chr5:74804574..74807080-chr5:74963425..74964973,2	K562	blood:
8	chr5:74961965..74963917-chr5:74970216..74971914,2	K562	blood:
9	chr5:74959970..74961673-chr5:74963157..74964976,2	K562	blood:

No data

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10056022	0.92[EUR][1000 genomes]
rs11748475	0.88[ASN][1000 genomes]
rs11749985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16872770	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16872776	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17563395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17563512	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17564079	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17648910	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17649030	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17649109	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28493912	0.92[EUR][1000 genomes]
rs34078310	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35130836	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5744707	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[ASN][1000 genomes]
rs58212453	0.88[ASN][1000 genomes]
rs58429194	0.88[EUR][1000 genomes]
rs58578970	0.88[ASN][1000 genomes]
rs6888261	0.84[AFR][1000 genomes]
rs6894099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73124778	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73124801	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73126706	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73126731	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73126735	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73126742	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73126745	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73126747	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73126758	0.88[ASN][1000 genomes]
rs73126775	0.88[ASN][1000 genomes]
rs7702134	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7715739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer 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	18 gene(s)	inside rSNPs	diseases
4	nsv522003	chr5:74947435-74988369	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv830353	chr5:74961520-75152609	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74921800-74964400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:74952600-74964200	Weak transcription	Stomach Mucosa	stomach
3	chr5:74952800-74964000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:74952800-74964200	Weak transcription	Right Ventricle	heart
5	chr5:74952800-74964400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:74952800-74981400	Weak transcription	Psoas Muscle	Psoas
7	chr5:74953000-74964200	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:74953000-74964400	Weak transcription	Adipose Nuclei	Adipose
9	chr5:74953000-74964400	Weak transcription	Fetal Kidney	kidney
10	chr5:74953000-74964400	Weak transcription	Fetal Stomach	stomach
11	chr5:74953000-74964600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:74956000-74965000	Weak transcription	NHEK	skin
13	chr5:74956600-74964400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:74956800-74964600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:74957400-74966000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:74957400-74966000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:74958000-74964600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:74958400-74964400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:74959200-74965200	Enhancers	Brain Substantia Nigra	brain
20	chr5:74960200-74968600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:74960800-74965400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:74961000-74964200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:74961000-74976800	Weak transcription	Colon Smooth Muscle	Colon
24	chr5:74961000-74987800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr5:74961200-74964000	Strong transcription	Fetal Intestine Small	intestine
26	chr5:74961200-74964600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:74961200-74965000	Enhancers	Brain Hippocampus Middle	brain
28	chr5:74961200-74968000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:74962000-74964000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr5:74962000-74964200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:74962000-74964400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:74962000-74979400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:74962200-74965200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:74962400-74964200	Weak transcription	Brain Germinal Matrix	brain
35	chr5:74962600-74963600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr5:74962800-74964600	Strong transcription	Fetal Intestine Large	intestine
37	chr5:74962800-74964800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:74962800-74964800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr5:74963000-74963600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr5:74963000-74963800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr5:74963000-74964600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:74963000-74964800	Enhancers	Brain Anterior Caudate	brain
43	chr5:74963000-74966000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:74963000-74989800	Weak transcription	Esophagus	oesophagus
45	chr5:74963200-74964200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr5:74963200-74964200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:74963200-74964600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr5:74963200-74965000	Enhancers	Brain Angular Gyrus	brain
49	chr5:74963200-74965000	Enhancers	Brain Cingulate Gyrus	brain
50	chr5:74963200-74965400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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