Variant report

Variant	rs73476065
Chromosome Location	chr6:80745155-80745156
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:80744973-80745332	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:80743018..80745261-chr6:80747268..80749028,2	MCF-7	breast:
2	chr6:80745121..80747021-chr6:80747136..80749141,2	MCF-7	breast:
3	chr6:80744876..80746467-chr6:80815463..80817793,2	K562	blood:
4	chr6:80715006..80717903-chr6:80744998..80747221,3	K562	blood:

Variant related genes	Relation type
TTK	TF binding region
ENSG00000112742	Chromatin interaction
ENSG00000083123	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs2230510	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55940239	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55981655	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56004543	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56919942	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57018426	0.83[AMR][1000 genomes]
rs57279047	0.83[AMR][1000 genomes]
rs57787325	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57906390	0.83[AMR][1000 genomes]
rs59000209	0.83[AMR][1000 genomes]
rs61060954	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61354305	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61607353	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73474059	0.83[AMR][1000 genomes]
rs73474067	0.83[AMR][1000 genomes]
rs73474068	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474069	0.83[AMR][1000 genomes]
rs73474076	0.83[AMR][1000 genomes]
rs73474082	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474087	0.83[AMR][1000 genomes]
rs73476022	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73476044	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73476046	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73476061	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73476098	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73477920	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73477923	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73747990	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73747991	0.83[AMR][1000 genomes];1.00[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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv5370	chr6:80715351-80751740	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv886306	chr6:80724666-80754346	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv886307	chr6:80724666-80765111	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv886308	chr6:80734870-80765111	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80715000-80748000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:80715000-80752200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:80715000-80752400	Weak transcription	Placenta	Placenta
4	chr6:80715200-80749600	Weak transcription	Fetal Intestine Small	intestine
5	chr6:80715200-80752000	Weak transcription	Primary B cells from cord blood	blood
6	chr6:80715200-80752200	Weak transcription	Primary T cells from cord blood	blood
7	chr6:80715400-80745400	Weak transcription	Fetal Lung	lung
8	chr6:80715400-80755000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:80715400-80756800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:80715600-80754400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:80715600-80763800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:80715800-80753600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:80715800-80753800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:80715800-80754400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:80716200-80754600	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:80716800-80753600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr6:80721600-80760400	Weak transcription	Fetal Kidney	kidney
18	chr6:80722200-80755400	Strong transcription	Dnd41	blood
19	chr6:80723600-80752200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr6:80724000-80749600	Weak transcription	NHLF	lung
21	chr6:80727200-80755200	Weak transcription	Fetal Brain Female	brain
22	chr6:80730200-80749000	Strong transcription	Fetal Thymus	thymus
23	chr6:80730200-80752600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:80730400-80748200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:80730400-80753600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:80730400-80753600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:80730600-80753600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:80732000-80748400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:80732000-80749200	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr6:80732800-80750200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:80732800-80758800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr6:80732800-80762600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:80733800-80748800	Strong transcription	HUVEC	blood vessel
34	chr6:80734800-80758800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:80736000-80748800	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr6:80738000-80757600	Weak transcription	Esophagus	oesophagus
37	chr6:80738200-80748400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:80738400-80748400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:80738600-80748800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:80738800-80753400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:80740000-80745200	Strong transcription	GM12878-XiMat	blood
42	chr6:80740200-80746600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr6:80740200-80753600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr6:80740400-80759200	Weak transcription	Fetal Stomach	stomach
45	chr6:80740600-80758800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr6:80741400-80745800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:80741600-80756800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:80741800-80747000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr6:80742200-80746800	Weak transcription	Hela-S3	cervix
50	chr6:80742200-80748000	Weak transcription	Thymus	Thymus

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