Variant report

Variant	rs6816982
Chromosome Location	chr4:15695371-15695372
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:15688099..15691851-chr4:15693334..15695870,4	MCF-7	breast:
2	chr4:15681921..15686275-chr4:15691863..15696153,5	MCF-7	breast:
3	chr4:15690443..15693747-chr4:15694264..15697002,4	MCF-7	breast:
4	chr4:15694240..15696950-chr4:15697578..15699264,2	K562	blood:
5	chr4:15694450..15696335-chr4:15709178..15711089,2	K562	blood:
6	chr4:15681864..15684711-chr4:15693496..15696288,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118564	Chromatin interaction
ENSG00000237765	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10005305	0.96[AFR][1000 genomes]
rs10008878	0.94[AFR][1000 genomes]
rs10009089	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10025875	0.95[AFR][1000 genomes]
rs10034315	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11722757	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11722854	0.81[ASN][1000 genomes]
rs11723478	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11726647	0.91[ASN][1000 genomes]
rs11732953	0.90[AFR][1000 genomes]
rs12642407	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12650529	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13134177	0.89[AFR][1000 genomes]
rs13150957	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1786	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28394730	0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs28402170	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28447067	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28604503	0.81[ASN][1000 genomes]
rs28644177	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28820655	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34473224	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34559117	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34955342	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35013326	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35120298	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3756247	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775956	0.96[AFR][1000 genomes]
rs3775957	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4257653	0.98[ASN][1000 genomes]
rs4301111	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4331772	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4346644	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4396986	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4423870	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4484296	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4549375	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4554069	0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4600905	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4698116	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6414764	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6815254	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6823775	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6824422	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6825051	0.81[AFR][1000 genomes]
rs6826058	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6828776	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6839654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6843740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6848779	0.97[AFR][1000 genomes]
rs6852735	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6857442	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7434484	0.81[ASN][1000 genomes]
rs7667175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7698596	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9994518	0.96[AFR][1000 genomes];0.81[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	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15684000-15697000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:15684000-15704400	Weak transcription	Left Ventricle	heart
3	chr4:15684800-15704400	Weak transcription	Aorta	Aorta
4	chr4:15685000-15695800	Weak transcription	Stomach Mucosa	stomach
5	chr4:15686600-15704400	Weak transcription	Thymus	Thymus
6	chr4:15687200-15701200	Weak transcription	Fetal Intestine Small	intestine
7	chr4:15687600-15696800	Weak transcription	Fetal Stomach	stomach
8	chr4:15687600-15697000	Weak transcription	Esophagus	oesophagus
9	chr4:15688400-15697200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:15688400-15703800	Weak transcription	Fetal Kidney	kidney
11	chr4:15688600-15695600	Weak transcription	Fetal Lung	lung
12	chr4:15689600-15697200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr4:15690600-15697800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr4:15691000-15697000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr4:15691000-15698600	Weak transcription	Dnd41	blood
16	chr4:15691400-15696000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:15691400-15697200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:15691400-15698400	Weak transcription	Primary T cells from cord blood	blood
19	chr4:15691400-15698400	Weak transcription	Liver	Liver
20	chr4:15691400-15704000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:15691400-15704200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:15692200-15696000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:15692200-15704000	Weak transcription	Brain Germinal Matrix	brain
24	chr4:15692600-15697000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:15692800-15696800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr4:15692800-15696800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:15693200-15695600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:15693200-15695800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:15693200-15696600	Weak transcription	Hela-S3	cervix
30	chr4:15693200-15696800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:15693200-15696800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:15693200-15701600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr4:15693400-15696200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:15693400-15696400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr4:15693400-15697000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:15693400-15702800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr4:15693600-15695400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr4:15693600-15695800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr4:15693600-15695800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr4:15693600-15695800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:15693600-15696000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:15693600-15698800	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr4:15693600-15701800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:15693800-15697000	Weak transcription	HSMMtube	muscle
45	chr4:15694000-15695600	Weak transcription	NHEK	skin
46	chr4:15694000-15695800	Weak transcription	HMEC	breast
47	chr4:15694000-15696800	Weak transcription	HUVEC	blood vessel
48	chr4:15694200-15697000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:15694200-15699000	Weak transcription	Primary B cells from cord blood	blood
50	chr4:15694400-15696200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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