Variant report

Variant	rs10046723
Chromosome Location	chr8:91655278-91655279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr8:91654807-91658067	MCF-7	breast:	n/a	n/a
2	POLR2A	chr8:91651930-91659303	MCF-7	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:91654622..91657377-chr8:91792859..91795110,2	K562	blood:
2	chr8:91654051..91656885-chr8:91803019..91806273,4	MCF-7	breast:
3	chr8:91654238..91656466-chr8:91898414..91902321,3	MCF-7	breast:
4	chr8:91653540..91656169-chr8:91952201..91954392,2	K562	blood:
5	chr1:148551689..148553577-chr8:91655255..91657284,2	MCF-7	breast:
6	chr8:91655211..91656811-chr8:91701508..91704271,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000246792	TF binding region
ENSG00000123119	Chromatin interaction
ENSG00000180694	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10046610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10046655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102274	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10103195	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11986094	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11989315	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11994308	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893366	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16905044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16905150	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28394575	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4265146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4339599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4500048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4571698	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984689	0.83[EUR][1000 genomes]
rs6994987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011692	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7017389	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73301574	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301578	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301581	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301593	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305518	0.93[EUR][1000 genomes]
rs7823529	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297885	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827745	chr8:91623737-91660193	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91630600-91656800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:91632000-91656800	Weak transcription	Left Ventricle	heart
3	chr8:91643200-91655400	Weak transcription	Brain Germinal Matrix	brain
4	chr8:91643200-91657200	Weak transcription	Gastric	stomach
5	chr8:91647800-91656600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:91649000-91655600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:91650600-91655400	Weak transcription	Esophagus	oesophagus
8	chr8:91650800-91656800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:91651400-91655400	Weak transcription	Right Ventricle	heart
10	chr8:91652200-91655600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:91652200-91656000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
12	chr8:91652200-91656600	Enhancers	Primary B cells from peripheral blood	blood
13	chr8:91652200-91659400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr8:91652400-91656400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr8:91652600-91655800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
16	chr8:91653000-91656400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr8:91653200-91656000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
18	chr8:91653200-91656200	Enhancers	Small Intestine	intestine
19	chr8:91653400-91655400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:91653400-91656400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr8:91653400-91657000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
22	chr8:91653600-91655600	Enhancers	Fetal Intestine Small	intestine
23	chr8:91653600-91656600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr8:91653800-91655400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr8:91653800-91655400	Enhancers	HUVEC	blood vessel
26	chr8:91653800-91656000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr8:91653800-91657000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr8:91654000-91655400	Enhancers	Primary B cells from cord blood	blood
29	chr8:91654000-91655800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:91654000-91657800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:91654000-91659200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:91654000-91659400	Active TSS	H9 Cell Line	embryonic stem cell
33	chr8:91654200-91655600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:91654200-91655800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr8:91654200-91656400	Enhancers	Fetal Brain Male	brain
36	chr8:91654200-91656600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:91654200-91656800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr8:91654200-91656800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:91654200-91657800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:91654200-91659000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:91654400-91655400	Enhancers	Brain Anterior Caudate	brain
42	chr8:91654400-91655400	Enhancers	Fetal Muscle Leg	muscle
43	chr8:91654400-91655400	Enhancers	Psoas Muscle	Psoas
44	chr8:91654400-91655600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr8:91654400-91655600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr8:91654400-91656000	Enhancers	Fetal Stomach	stomach
47	chr8:91654400-91656600	Enhancers	Stomach Mucosa	stomach
48	chr8:91654400-91657400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:91654400-91659600	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr8:91654600-91655400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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