Variant report

Variant	rs11446289
Chromosome Location	chr6:80743110-80743111
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	SPI1	chr6:80742775-80743115	GM12891	blood:	n/a	n/a
2	POLR2A	chr6:80742635-80743379	K562	blood:	n/a	n/a
3	POLR2A	chr6:80743077-80743255	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80743018..80745261-chr6:80747268..80749028,2	MCF-7	breast:
2	chr6:80742236..80743849-chr6:80785962..80787542,2	K562	blood:

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

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13190687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13194041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13195312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13197924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13198886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13207785	1.00[AMR][1000 genomes]
rs13210539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13211239	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13216126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13219055	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2230513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34038612	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34239525	1.00[AMR][1000 genomes]
rs34566095	1.00[AMR][1000 genomes]
rs34666876	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35213475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35302124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36122081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71539129	1.00[AMR][1000 genomes]
rs71565063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71565064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71565065	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71565067	1.00[AMR][1000 genomes];1.00[EUR][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	chr6:80715400-80743200	Weak transcription	Brain Germinal Matrix	brain
8	chr6:80715400-80745400	Weak transcription	Fetal Lung	lung
9	chr6:80715400-80755000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr6:80715400-80756800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:80715600-80754400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:80715600-80763800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr6:80715800-80753600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:80715800-80753800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr6:80715800-80754400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr6:80716000-80743600	Weak transcription	Fetal Heart	heart
17	chr6:80716200-80754600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:80716800-80753600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr6:80721600-80760400	Weak transcription	Fetal Kidney	kidney
20	chr6:80722200-80755400	Strong transcription	Dnd41	blood
21	chr6:80723600-80752200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr6:80724000-80749600	Weak transcription	NHLF	lung
23	chr6:80727200-80755200	Weak transcription	Fetal Brain Female	brain
24	chr6:80730200-80749000	Strong transcription	Fetal Thymus	thymus
25	chr6:80730200-80752600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:80730400-80748200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:80730400-80753600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:80730400-80753600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:80730600-80753600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:80732000-80748400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:80732000-80749200	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr6:80732800-80750200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:80732800-80758800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:80732800-80762600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:80733000-80744600	Weak transcription	Osteobl	bone
36	chr6:80733800-80748800	Strong transcription	HUVEC	blood vessel
37	chr6:80734800-80758800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:80736000-80748800	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr6:80738000-80757600	Weak transcription	Esophagus	oesophagus
40	chr6:80738200-80743200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:80738200-80743200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:80738200-80748400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:80738400-80748400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:80738600-80748800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:80738800-80753400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:80739200-80744600	Strong transcription	NHEK	skin
47	chr6:80739400-80743400	Strong transcription	K562	blood
48	chr6:80740000-80745200	Strong transcription	GM12878-XiMat	blood
49	chr6:80740200-80744000	Weak transcription	Fetal Intestine Large	intestine
50	chr6:80740200-80746600	Weak transcription	Fetal Muscle Trunk	muscle

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