Variant report

Variant	rs28847046
Chromosome Location	chr6:34378223-34378224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34214488..34218598-chr6:34376198..34378970,4	K562	blood:
2	chr6:34247219..34249868-chr6:34377051..34378907,2	K562	blood:
3	chr6:34356693..34361584-chr6:34376924..34385699,12	K562	blood:
4	chr6:34215636..34217809-chr6:34377470..34379106,2	K562	blood:

Variant related genes	Relation type
ENSG00000186577	Chromatin interaction
ENSG00000272325	Chromatin interaction
ENSG00000225339	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12662460	0.82[ASN][1000 genomes]
rs12664001	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12664016	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12665397	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16889706	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16889714	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1811968	0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2006833	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs206919	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs206920	0.82[ASN][1000 genomes]
rs206924	0.80[ASN][1000 genomes]
rs3778077	0.85[ASN][1000 genomes]
rs3798560	0.82[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs3798562	0.82[ASN][1000 genomes]
rs3798564	0.88[ASN][1000 genomes]
rs414739	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs4295465	0.82[AMR][1000 genomes]
rs4587164	0.89[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4713774	0.81[ASN][1000 genomes]
rs4713775	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4713776	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4713777	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4713780	0.86[ASN][1000 genomes]
rs4713781	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4713784	0.81[AMR][1000 genomes]
rs4713786	0.83[AMR][1000 genomes]
rs58648597	0.88[ASN][1000 genomes]
rs61582147	0.83[AMR][1000 genomes]
rs62399909	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6457773	0.80[ASN][1000 genomes]
rs6912971	0.83[ASN][1000 genomes]
rs6924482	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6924682	0.80[ASN][1000 genomes]
rs6925243	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6935129	0.87[ASN][1000 genomes]
rs7752035	0.82[ASN][1000 genomes]
rs7757900	0.80[ASN][1000 genomes]
rs7775635	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9368813	0.80[ASN][1000 genomes]
rs9380433	0.89[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9394214	0.80[ASN][1000 genomes]
rs9461981	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34361000-34384800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:34361200-34382400	Weak transcription	Pancreas	Pancrea
3	chr6:34361200-34384800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:34361400-34378600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:34361800-34382400	Weak transcription	Fetal Intestine Small	intestine
6	chr6:34362200-34382000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:34367400-34379800	Weak transcription	HepG2	liver
8	chr6:34370000-34383400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:34371200-34378400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:34371200-34383400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:34371400-34384000	Weak transcription	Right Ventricle	heart
12	chr6:34372400-34379000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr6:34372400-34389400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:34373000-34382400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:34374000-34379200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:34375200-34382400	Weak transcription	K562	blood
17	chr6:34375200-34383600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr6:34375400-34379800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr6:34375400-34380000	Weak transcription	Thymus	Thymus
20	chr6:34375600-34383600	Weak transcription	Fetal Brain Female	brain
21	chr6:34375800-34382000	Weak transcription	Dnd41	blood
22	chr6:34376600-34378400	Weak transcription	Fetal Stomach	stomach
23	chr6:34376600-34382600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr6:34376800-34380000	Weak transcription	GM12878-XiMat	blood
25	chr6:34377200-34379600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr6:34377200-34382400	Weak transcription	Small Intestine	intestine
27	chr6:34377200-34384800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:34377400-34380400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr6:34377400-34380400	Weak transcription	HSMM	muscle
30	chr6:34377400-34382000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:34377400-34382000	Weak transcription	Brain Germinal Matrix	brain
32	chr6:34377400-34382400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr6:34377400-34382600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:34377400-34382600	Weak transcription	Fetal Muscle Leg	muscle
35	chr6:34377400-34383400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr6:34377400-34383400	Weak transcription	Lung	lung
37	chr6:34377400-34383800	Weak transcription	Esophagus	oesophagus
38	chr6:34377400-34385000	Weak transcription	Psoas Muscle	Psoas
39	chr6:34377600-34379200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:34377600-34380600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:34377600-34382200	Weak transcription	Adipose Nuclei	Adipose
42	chr6:34377800-34380000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:34377800-34380600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr6:34378000-34379800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr6:34378000-34380400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:34378000-34382200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:34378000-34383600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr6:34378200-34378400	Enhancers	A549	lung
49	chr6:34378200-34379800	Weak transcription	Fetal Thymus	thymus
50	chr6:34378200-34380000	Weak transcription	Primary T cells from cord blood	blood

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