Variant report

Variant	rs71571336
Chromosome Location	chr6:38606220-38606221
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	chr6:38565254..38567561-chr6:38606168..38608897,2	MCF-7	breast:
2	chr6:38605277..38607230-chr6:38608690..38610298,2	K562	blood:

Variant related genes	Relation type
ENSG00000183826	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10484855	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1130534	0.80[EUR][1000 genomes]
rs11751782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206711	1.00[ASN][1000 genomes]
rs12212784	1.00[ASN][1000 genomes]
rs13191302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13194237	0.85[EUR][1000 genomes]
rs13196530	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13196708	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13198900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13199033	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13202862	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13203443	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13207160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13209846	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13210334	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13212218	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13213257	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13214969	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13215896	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13217234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13218305	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13219252	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13219395	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13219781	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1698998	1.00[ASN][1000 genomes]
rs17544311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17544868	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1937782	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2654449	1.00[ASN][1000 genomes]
rs28360530	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34349982	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34360712	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34408317	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34470929	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34519749	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34637217	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34695044	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34897279	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34962226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34971977	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35147121	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35152718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35207097	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35266471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35364976	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35388596	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35901431	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35975219	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67457665	1.00[ASN][1000 genomes]
rs71544423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71571331	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71571332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72856580	1.00[ASN][1000 genomes]
rs73416349	1.00[ASN][1000 genomes]
rs73416350	1.00[ASN][1000 genomes]
rs73416351	1.00[ASN][1000 genomes]
rs7451595	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7604	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746400	1.00[ASN][1000 genomes]
rs7750789	1.00[ASN][1000 genomes]
rs7762397	1.00[ASN][1000 genomes]
rs963720	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh 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	esv2758049	chr6:38588969-38711085	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv2759421	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv427754	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv428144	chr6:38588969-38711085	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38599600-38606600	Weak transcription	Lung	lung
2	chr6:38600600-38606600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:38600800-38606600	Weak transcription	Right Ventricle	heart
4	chr6:38601000-38606400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:38601200-38607000	Weak transcription	Gastric	stomach
6	chr6:38601600-38606600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:38602000-38606600	Weak transcription	Psoas Muscle	Psoas
8	chr6:38602200-38606400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:38602200-38606600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:38602400-38606600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:38602600-38606400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:38602600-38606400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:38602600-38606600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:38602800-38606400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr6:38602800-38606400	Weak transcription	Brain Substantia Nigra	brain
16	chr6:38602800-38606400	Weak transcription	HSMM	muscle
17	chr6:38602800-38606600	Weak transcription	NH-A	brain
18	chr6:38603000-38606400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr6:38603000-38606400	Weak transcription	HUVEC	blood vessel
20	chr6:38603000-38606600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:38603400-38606400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr6:38603400-38606600	Weak transcription	Left Ventricle	heart
23	chr6:38603800-38606600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:38603800-38606600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr6:38604200-38606600	Weak transcription	Thymus	Thymus
26	chr6:38604200-38606800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr6:38604600-38606600	Weak transcription	Stomach Mucosa	stomach
28	chr6:38604600-38606600	Weak transcription	Spleen	Spleen
29	chr6:38604800-38606400	Weak transcription	Fetal Intestine Large	intestine
30	chr6:38605000-38606400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:38605000-38606600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr6:38605200-38606400	Weak transcription	Primary B cells from cord blood	blood
33	chr6:38605200-38606600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr6:38605200-38607000	Weak transcription	Small Intestine	intestine
35	chr6:38605400-38606400	Enhancers	Brain Angular Gyrus	brain
36	chr6:38605400-38606600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:38605600-38606400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr6:38605600-38606600	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr6:38605800-38606600	Weak transcription	Ovary	ovary
40	chr6:38605800-38606800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr6:38606000-38606400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:38606000-38606400	Enhancers	Brain Hippocampus Middle	brain
43	chr6:38606000-38606600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr6:38606000-38606600	Enhancers	Liver	Liver
45	chr6:38606000-38606600	Enhancers	Brain Germinal Matrix	brain
46	chr6:38606000-38606600	Enhancers	Dnd41	blood
47	chr6:38606200-38606400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:38606200-38606400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:38606200-38606400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:38606200-38606400	Active TSS	Duodenum Smooth Muscle	Duodenum

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