Variant report

Variant	rs927129
Chromosome Location	chr6:110014393-110014394
allele	C/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	chr6:110014292-110014743	HL-60	blood:	n/a	chr6:110014487-110014496
2	MXI1	chr6:110014236-110014742	GM12878	blood:	n/a	n/a
3	SPI1	chr6:110014377-110014729	HL-60	blood:	n/a	chr6:110014487-110014496
4	SPI1	chr6:110014062-110014874	GM12878	blood:	n/a	chr6:110014487-110014496
5	SPI1	chr6:110014364-110014598	GM12878	blood:	n/a	chr6:110014487-110014496
6	SPI1	chr6:110014220-110014684	GM12891	blood:	n/a	chr6:110014487-110014496
7	EP300	chr6:110014321-110014714	GM12878	blood:	n/a	chr6:110014487-110014501
8	REST	chr6:110014387-110014648	Hela-S3	cervix:	n/a	n/a
9	CUX1	chr6:110014356-110014624	GM12878	blood:	n/a	n/a
10	SPI1	chr6:110014264-110014733	GM12891	blood:	n/a	chr6:110014487-110014496
11	SPI1	chr6:110014332-110014720	GM12878	blood:	n/a	chr6:110014487-110014496
12	STAT3	chr6:110014278-110014659	GM12878	blood:	n/a	chr6:110014485-110014496
13	IRF4	chr6:110014341-110014725	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
AK9	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs73523083	0.83[AFR][1000 genomes]
rs7753224	1.00[YRI][hapmap]
rs7770646	0.82[AFR][1000 genomes]
rs927128	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9480994	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9481000	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9487128	1.00[YRI][hapmap]
rs9487173	1.00[YRI][hapmap]
rs9487197	0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9487198	0.91[AFR][1000 genomes];1.00[AMR][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	nsv949475	chr6:109907936-110160501	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv933105	chr6:109933270-110064342	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv817322	chr6:109933272-110070574	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv830769	chr6:109944334-110078120	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv604485	chr6:109959269-110054486	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110011200-110015000	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr6:110012800-110015000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr6:110013000-110015000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr6:110013000-110022400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:110013000-110022400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:110013000-110023600	Weak transcription	Gastric	stomach
7	chr6:110013000-110024800	Weak transcription	Lung	lung
8	chr6:110013000-110025200	Weak transcription	Small Intestine	intestine
9	chr6:110013000-110027400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:110013000-110027400	Weak transcription	Spleen	Spleen
11	chr6:110013000-110057000	Weak transcription	Left Ventricle	heart
12	chr6:110013000-110114400	Weak transcription	Right Ventricle	heart
13	chr6:110013200-110014800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr6:110013200-110014800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr6:110013200-110014800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr6:110013200-110014800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr6:110013200-110014800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:110013200-110014800	Enhancers	Liver	Liver
19	chr6:110013200-110014800	Enhancers	Brain Cingulate Gyrus	brain
20	chr6:110013200-110015000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr6:110013200-110015000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr6:110013200-110015000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:110013200-110020200	Weak transcription	Colonic Mucosa	Colon
24	chr6:110013200-110022200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:110013200-110022400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr6:110013200-110024200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:110013200-110026400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr6:110013200-110026600	Weak transcription	Ovary	ovary
29	chr6:110013200-110034000	Weak transcription	Fetal Stomach	stomach
30	chr6:110013200-110057000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:110013200-110057000	Weak transcription	Aorta	Aorta
32	chr6:110013400-110014600	Enhancers	Brain Germinal Matrix	brain
33	chr6:110013400-110014600	Enhancers	Duodenum Mucosa	Duodenum
34	chr6:110013400-110014600	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr6:110013400-110015000	Enhancers	Primary hematopoietic stem cells	blood
36	chr6:110013400-110015000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:110013400-110015000	Enhancers	Fetal Brain Female	brain
38	chr6:110013400-110022200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr6:110013400-110023200	Weak transcription	Fetal Intestine Large	intestine
40	chr6:110013400-110038600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:110013600-110014400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr6:110013600-110014400	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr6:110013600-110014400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:110013600-110014600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:110013600-110014600	Weak transcription	Stomach Mucosa	stomach
46	chr6:110013600-110014800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr6:110013600-110014800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:110013600-110014800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr6:110013600-110014800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:110013600-110014800	Enhancers	Dnd41	blood

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