Variant report

Variant	rs17135319
Chromosome Location	chr11:76700087-76700088
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76699145..76701750-chr11:76703493..76705984,2	K562	blood:
2	chr11:76693879..76696563-chr11:76699673..76701721,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078124	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1062170	0.81[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10736812	0.83[YRI][hapmap]
rs10793227	0.83[YRI][hapmap]
rs10899340	0.84[YRI][hapmap]
rs10899341	0.83[YRI][hapmap]
rs12223659	0.84[YRI][hapmap]
rs1517909	0.84[YRI][hapmap]
rs1589126	0.83[YRI][hapmap]
rs17135310	0.82[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17160169	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2156770	0.84[YRI][hapmap]
rs2187498	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs3740765	0.83[YRI][hapmap]
rs3781697	0.84[YRI][hapmap]
rs3824889	0.83[YRI][hapmap]
rs4341568	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4460836	0.84[YRI][hapmap]
rs4597093	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4945129	0.83[YRI][hapmap]
rs4945132	0.84[YRI][hapmap]
rs57505872	1.00[EUR][1000 genomes]
rs57756929	1.00[EUR][1000 genomes]
rs58530046	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58566866	1.00[EUR][1000 genomes]
rs60982520	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6592673	1.00[EUR][1000 genomes]
rs6592681	1.00[EUR][1000 genomes]
rs6592695	0.82[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6592696	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7102199	1.00[EUR][1000 genomes]
rs7103881	1.00[EUR][1000 genomes]
rs7104807	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7105271	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs7105797	1.00[EUR][1000 genomes]
rs7106009	1.00[EUR][1000 genomes]
rs7106029	1.00[EUR][1000 genomes]
rs7113911	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7114082	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7114367	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7115053	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7118970	1.00[EUR][1000 genomes]
rs7119233	1.00[EUR][1000 genomes]
rs73489514	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73489576	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73489579	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73489582	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73489585	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73489594	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73491425	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73491456	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73507813	1.00[EUR][1000 genomes]
rs73507817	1.00[EUR][1000 genomes]
rs73507826	1.00[EUR][1000 genomes]
rs73507833	1.00[EUR][1000 genomes]
rs7924330	1.00[EUR][1000 genomes]
rs7925652	0.84[YRI][hapmap]
rs7925774	0.83[YRI][hapmap]
rs7927367	0.83[YRI][hapmap]
rs7931646	0.83[YRI][hapmap]
rs7931869	0.84[YRI][hapmap]
rs7932066	1.00[EUR][1000 genomes]
rs7932449	1.00[EUR][1000 genomes]
rs7933347	1.00[EUR][1000 genomes]
rs7940782	0.84[YRI][hapmap]
rs7943089	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7943364	0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7943396	0.84[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7943913	0.83[YRI][hapmap]
rs7945781	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9704887	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9919623	0.81[YRI][hapmap];1.00[EUR][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	nsv519700	chr11:76637651-76709407	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1042924	chr11:76659477-76709407	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1040833	chr11:76667160-76709407	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv396	chr11:76670116-76702745	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1802222	chr11:76683305-76709407	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76660000-76710800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr11:76675000-76721800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:76675000-76725600	Weak transcription	A549	lung
4	chr11:76675000-76729600	Weak transcription	Brain Angular Gyrus	brain
5	chr11:76683000-76736400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:76683200-76729200	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:76683600-76720400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:76683600-76728000	Weak transcription	Brain Anterior Caudate	brain
9	chr11:76688600-76710800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:76689200-76734600	Weak transcription	Liver	Liver
11	chr11:76689400-76700600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:76689400-76700800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:76689600-76701200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:76689600-76717800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:76689600-76737000	Weak transcription	Pancreas	Pancrea
16	chr11:76689800-76704800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr11:76689800-76708400	Weak transcription	Primary T cells from cord blood	blood
18	chr11:76689800-76731400	Weak transcription	Ovary	ovary
19	chr11:76690000-76706000	Weak transcription	Gastric	stomach
20	chr11:76690000-76709200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:76690000-76718000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:76690000-76718600	Weak transcription	Primary B cells from cord blood	blood
23	chr11:76690000-76722000	Weak transcription	Aorta	Aorta
24	chr11:76690000-76723800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:76690000-76735800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:76690200-76704000	Weak transcription	Lung	lung
27	chr11:76690200-76704800	Weak transcription	Fetal Stomach	stomach
28	chr11:76690200-76709200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:76690200-76710000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:76690200-76710600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:76690200-76722000	Weak transcription	Spleen	Spleen
32	chr11:76690200-76729000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:76690200-76736800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr11:76690400-76717200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:76690400-76734600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr11:76691600-76701200	Weak transcription	Colonic Mucosa	Colon
37	chr11:76692600-76713000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr11:76693800-76734800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr11:76694000-76738600	Weak transcription	HSMMtube	muscle
40	chr11:76696000-76702200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:76696000-76711200	Strong transcription	Adipose Nuclei	Adipose
42	chr11:76696200-76708400	Weak transcription	HMEC	breast
43	chr11:76696200-76738000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:76696400-76701800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr11:76696400-76702000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr11:76696400-76706200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:76696400-76714800	Weak transcription	NHEK	skin
48	chr11:76696400-76726600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:76696600-76700800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr11:76696600-76722200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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