Variant report

Variant	rs10830997
Chromosome Location	chr11:92903567-92903568
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	SMC3	chr11:92903142-92903619	Hela-S3	cervix:	n/a	n/a
2	RAD21	chr11:92903174-92903571	A549	lung:	n/a	chr11:92903309-92903328
3	CTCF	chr11:92903006-92903840	SK-N-SH	brain:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
4	RAD21	chr11:92903018-92903597	HCT-116	colon:	n/a	chr11:92903309-92903328
5	SMC3	chr11:92903033-92903643	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr11:92903031-92903634	A549	lung:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
7	RAD21	chr11:92902925-92903733	SK-N-SH	brain:	n/a	chr11:92903309-92903328
8	CTCF	chr11:92903134-92903593	IMR90	lung:	n/a	chr11:92903306-92903327 chr11:92903311-92903329

Variant related genes	Relation type
SLC36A4	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10830986	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10830987	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10830990	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10830992	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10830993	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10830995	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10830999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831000	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10831001	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10831002	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831007	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11020180	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11020183	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020189	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11020190	1.00[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020191	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11020192	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020196	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11020197	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11020198	0.86[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.88[ASN][1000 genomes]
rs11020199	0.84[ASN][1000 genomes]
rs11020200	0.84[ASN][1000 genomes]
rs11020206	0.80[ASN][1000 genomes]
rs11020207	0.81[AMR][1000 genomes]
rs11020208	0.81[ASN][1000 genomes]
rs12221889	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12365990	0.95[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16918625	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs16918677	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2121467	0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2166583	0.89[ASN][1000 genomes]
rs2399605	0.84[ASN][1000 genomes]
rs3758676	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3943572	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.87[MKK][hapmap];0.91[ASN][1000 genomes]
rs3957618	0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4753437	0.91[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4753438	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4753439	0.84[ASN][1000 genomes]
rs58121936	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs67573258	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7111174	0.82[CHB][hapmap]
rs7121033	0.80[ASN][1000 genomes]
rs7121713	0.86[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs753517	0.82[CHB][hapmap]
rs7933585	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7933922	0.84[ASN][1000 genomes]
rs7936669	0.85[ASN][1000 genomes]
rs7936931	0.84[ASN][1000 genomes]
rs935447	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs935448	0.95[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039134	chr11:92790000-93219942	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv898176	chr11:92877533-92965312	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv898177	chr11:92877533-92971874	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv898178	chr11:92881933-92949447	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv898179	chr11:92881933-92956873	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1047828	chr11:92886648-92915055	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1045544	chr11:92889187-92915055	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1041794	chr11:92893654-92915055	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv818858	chr11:92898342-92932229	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	esv2757465	chr11:92898342-92934137	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	esv2759853	chr11:92898342-92934137	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92868400-92914600	Weak transcription	Brain Substantia Nigra	brain
2	chr11:92875400-92910400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:92876600-92910600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:92876800-92910600	Weak transcription	Lung	lung
5	chr11:92877000-92911400	Weak transcription	Osteobl	bone
6	chr11:92877800-92915000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:92878400-92910600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:92879000-92910800	Weak transcription	HSMMtube	muscle
9	chr11:92879600-92910000	Weak transcription	Fetal Brain Male	brain
10	chr11:92879600-92910800	Weak transcription	HMEC	breast
11	chr11:92882000-92910600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:92885800-92910000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:92889800-92911200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:92889800-92913600	Weak transcription	Spleen	Spleen
15	chr11:92890400-92910000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:92890600-92911600	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:92891200-92903800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:92891600-92925400	Weak transcription	Fetal Heart	heart
19	chr11:92891800-92910800	Weak transcription	Right Ventricle	heart
20	chr11:92891800-92929800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr11:92892000-92910800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:92892600-92910400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr11:92893200-92910600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr11:92893600-92910400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:92893800-92910000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:92895000-92910600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr11:92895400-92920000	Weak transcription	Psoas Muscle	Psoas
28	chr11:92895400-92921400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:92895800-92910600	Weak transcription	Pancreas	Pancrea
30	chr11:92896000-92910600	Weak transcription	Esophagus	oesophagus
31	chr11:92896200-92910600	Weak transcription	Colonic Mucosa	Colon
32	chr11:92896400-92910400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:92897200-92910000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:92897200-92914000	Weak transcription	Small Intestine	intestine
35	chr11:92897400-92910400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:92897400-92910400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr11:92897800-92911400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:92897800-92917200	Weak transcription	NHDF-Ad	bronchial
39	chr11:92898000-92910000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:92898000-92910400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:92898000-92910400	Weak transcription	Liver	Liver
42	chr11:92898000-92910400	Weak transcription	Brain Anterior Caudate	brain
43	chr11:92898000-92910600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:92898000-92910800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr11:92898000-92912000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:92898200-92910400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:92898200-92910400	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:92898200-92910400	Weak transcription	Fetal Thymus	thymus
49	chr11:92898200-92910600	Weak transcription	Placenta	Placenta
50	chr11:92898200-92919800	Weak transcription	Brain Angular Gyrus	brain

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