Variant report

Variant	rs4713866
Chromosome Location	chr6:35420267-35420268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:35418643..35423313-chr6:35462563..35468017,10	K562	blood:
2	chr6:35259972..35262009-chr6:35419216..35421184,2	MCF-7	breast:
3	chr6:35415818..35424678-chr6:35432486..35440672,36	K562	blood:
4	chr6:35309852..35312289-chr6:35417832..35421264,4	K562	blood:
5	chr6:35265057..35265957-chr6:35419424..35420709,3	K562	blood:
6	chr1:157015112..157015779-chr6:35419871..35420809,2	Hela-S3	cervix:
7	chr6:35418617..35424875-chr6:35434196..35438070,12	MCF-7	breast:
8	chr6:35308697..35314051-chr6:35417510..35421585,8	K562	blood:
9	chr6:30585321..30586075-chr6:35419788..35420370,2	HCT-116	colon:
10	chr6:35262981..35267829-chr6:35418945..35424124,7	K562	blood:
11	chr6:35309118..35313462-chr6:35418133..35422102,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000007866	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000065029	Chromatin interaction
ENSG00000132694	Chromatin interaction
ENSG00000198755	Chromatin interaction
ENSG00000023892	Chromatin interaction
ENSG00000112033	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1076655	0.83[ASN][1000 genomes]
rs11756089	0.83[ASN][1000 genomes]
rs11758353	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2076171	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs41270066	0.86[ASN][1000 genomes]
rs41270070	0.86[ASN][1000 genomes]
rs45454199	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs45464000	0.86[ASN][1000 genomes]
rs45472598	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs45624039	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4711417	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4713870	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4713871	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4713872	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830641	chr6:35282534-35440603	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
2	nsv602909	chr6:35356640-35423489	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv528351	chr6:35377922-35465786	Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
4	nsv885799	chr6:35378778-35442397	Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
5	nsv462908	chr6:35378778-35457396	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
6	nsv602910	chr6:35378778-35457396	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
7	nsv519370	chr6:35378778-35537406	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4713866	ENSG00000112039	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35419200-35420600	Active TSS	Rectal Smooth Muscle	rectum
2	chr6:35419200-35420800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:35419200-35421200	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr6:35419200-35421400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:35419400-35420600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:35419400-35420600	Active TSS	Primary T cells from cord blood	blood
7	chr6:35419400-35420600	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr6:35419600-35420400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:35419600-35420400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:35419600-35420600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:35419600-35420600	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr6:35419600-35420600	Active TSS	Left Ventricle	heart
13	chr6:35419600-35420800	Active TSS	Brain Angular Gyrus	brain
14	chr6:35419600-35420800	Active TSS	Fetal Kidney	kidney
15	chr6:35419600-35420800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr6:35419600-35421000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr6:35419600-35421000	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr6:35419600-35421000	Active TSS	Fetal Brain Female	brain
19	chr6:35419600-35421200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr6:35419600-35421200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:35419600-35421200	Active TSS	Psoas Muscle	Psoas
22	chr6:35419600-35421200	Active TSS	Right Atrium	heart
23	chr6:35419600-35421400	Active TSS	Ovary	ovary
24	chr6:35419600-35421600	Active TSS	Aorta	Aorta
25	chr6:35419800-35420400	Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr6:35419800-35420400	Active TSS	Adipose Nuclei	Adipose
27	chr6:35419800-35420400	Active TSS	Dnd41	blood
28	chr6:35419800-35420600	Active TSS	H1 Cell Line	embryonic stem cell
29	chr6:35419800-35420600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:35419800-35420600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:35419800-35420600	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr6:35419800-35420600	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr6:35419800-35420600	Active TSS	Primary monocytes fromperipheralblood	blood
34	chr6:35419800-35420600	Active TSS	Primary B cells from peripheral blood	blood
35	chr6:35419800-35420600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:35419800-35420600	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr6:35419800-35420600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr6:35419800-35420600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:35419800-35420600	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr6:35419800-35420600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr6:35419800-35420600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr6:35419800-35420600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:35419800-35420600	Active TSS	Muscle Satellite Cultured Cells	--
44	chr6:35419800-35420600	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr6:35419800-35420600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:35419800-35420600	Active TSS	Brain Hippocampus Middle	brain
47	chr6:35419800-35420600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr6:35419800-35420600	Active TSS	Duodenum Mucosa	Duodenum
49	chr6:35419800-35420600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr6:35419800-35420600	Weak transcription	Fetal Heart	heart

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