Variant report

Variant	rs1377471
Chromosome Location	chr11:77050983-77050984
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	chr11:77013216..77015295-chr11:77050036..77051707,2	MCF-7	breast:
2	chr11:77049818..77051483-chr11:77053054..77055489,2	K562	blood:

Variant related genes	Relation type
ENSG00000149269	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10899376	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10899378	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10899379	0.92[EUR][1000 genomes]
rs11237173	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11237189	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11237193	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11237195	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11237196	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11237199	0.86[EUR][1000 genomes]
rs12271542	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1377470	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1453343	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135625	0.91[ASN][1000 genomes]
rs1840151	0.94[EUR][1000 genomes]
rs2250639	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2250647	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2298793	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2602458	0.94[EUR][1000 genomes]
rs2602459	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2602463	0.87[EUR][1000 genomes]
rs2602464	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2602465	0.96[EUR][1000 genomes]
rs2602468	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2602469	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2602470	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2602472	0.98[EUR][1000 genomes]
rs2602477	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2602479	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2602488	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2602489	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2725810	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2725815	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2725816	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2725826	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2725827	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2725830	0.94[EUR][1000 genomes]
rs2725831	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2725832	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2729747	0.95[EUR][1000 genomes]
rs2729753	0.85[EUR][1000 genomes]
rs2729762	0.92[EUR][1000 genomes]
rs2729764	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2729769	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2729771	0.87[EUR][1000 genomes]
rs2844328	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2844332	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2844333	0.89[EUR][1000 genomes]
rs2844334	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2844336	0.88[EUR][1000 genomes]
rs2844337	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2852384	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2852385	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2852392	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2852394	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2853086	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2853087	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2853088	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2853090	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2853103	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3018424	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4590893	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7109645	0.85[EUR][1000 genomes]
rs7119033	0.93[EUR][1000 genomes]
rs7943778	0.83[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	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77028000-77068400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:77028200-77066000	Weak transcription	Fetal Kidney	kidney
3	chr11:77030600-77086800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:77030800-77054200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:77031600-77066400	Weak transcription	Gastric	stomach
6	chr11:77031600-77073800	Weak transcription	Spleen	Spleen
7	chr11:77031800-77070400	Weak transcription	Fetal Brain Male	brain
8	chr11:77032200-77066400	Weak transcription	Lung	lung
9	chr11:77033400-77067200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:77033400-77090400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr11:77033800-77059200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr11:77034400-77054600	Weak transcription	Pancreas	Pancrea
13	chr11:77034400-77059200	Weak transcription	Psoas Muscle	Psoas
14	chr11:77034400-77086200	Weak transcription	NHLF	lung
15	chr11:77034600-77051600	Weak transcription	Brain Anterior Caudate	brain
16	chr11:77034800-77063800	Weak transcription	Brain Substantia Nigra	brain
17	chr11:77034800-77064000	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:77037600-77051600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:77041800-77056600	Weak transcription	HSMMtube	muscle
20	chr11:77042600-77053600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:77042800-77080800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr11:77043000-77051600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:77043000-77056200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:77043000-77061000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:77043200-77055400	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr11:77043400-77054600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:77043400-77056800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:77043400-77066400	Weak transcription	Esophagus	oesophagus
29	chr11:77043400-77072600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:77043400-77074800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:77043400-77082400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:77043400-77083600	Weak transcription	Thymus	Thymus
33	chr11:77043600-77060800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:77043800-77056400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:77043800-77071400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:77043800-77088400	Weak transcription	Colonic Mucosa	Colon
37	chr11:77044000-77055800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr11:77044000-77056400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:77044000-77057800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr11:77044000-77061800	Weak transcription	Stomach Mucosa	stomach
41	chr11:77044000-77062000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:77044200-77062000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:77044200-77075000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr11:77044600-77071600	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:77045400-77055000	Strong transcription	HSMM	muscle
46	chr11:77045400-77056200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:77045400-77062200	Strong transcription	GM12878-XiMat	blood
48	chr11:77046200-77051200	Weak transcription	Osteobl	bone
49	chr11:77046200-77077000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:77046200-77092400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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