Variant report

Variant	rs6758149
Chromosome Location	chr2:40679417-40679418
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	MAX	chr2:40677290-40679814	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr2:40679128-40679609	MCF-7	breast:	n/a	n/a
3	CTBP2	chr2:40678329-40679708	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr2:40677399-40679671	IMR90	lung:	n/a	chr2:40677516-40677530 chr2:40679145-40679157
5	MAX	chr2:40677275-40679774	SK-N-SH	brain:	n/a	n/a
6	E2F6	chr2:40679410-40679817	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr2:40679369-40679751	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr2:40677300-40679656	ProgFib	skin:	n/a	n/a
9	ZNF263	chr2:40678236-40679559	HEK293-T-REx	kidney:	n/a	chr2:40679066-40679087
10	BACH1	chr2:40679271-40679645	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr2:40677363-40679724	H1-neurons	neurons:	n/a	n/a
12	SIN3A	chr2:40679342-40680016	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr2:40678267-40679899	A549	lung:	n/a	n/a
14	REST	chr2:40676851-40679573	H1-neurons	neurons:	n/a	n/a
15	MAX	chr2:40679358-40679843	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAZ	chr2:40676669-40679861	IMR90	lung:	n/a	n/a
17	POLR2A	chr2:40677289-40679780	H1-neurons	neurons:	n/a	n/a
18	E2F6	chr2:40679305-40679867	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SLC8A1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11679585	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11688289	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55957030	0.83[EUR][1000 genomes]
rs55983152	0.85[EUR][1000 genomes]
rs56298335	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62149448	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6723559	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6758867	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7609367	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv2700	chr2:40667461-40712805	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40674000-40679600	Enhancers	Fetal Heart	heart
2	chr2:40675200-40680000	Active TSS	Brain Anterior Caudate	brain
3	chr2:40675600-40680000	Active TSS	Fetal Brain Female	brain
4	chr2:40676400-40679600	Active TSS	Stomach Smooth Muscle	stomach
5	chr2:40676400-40680200	Active TSS	NHLF	lung
6	chr2:40676600-40680000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:40676800-40679600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:40676800-40680000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:40676800-40680200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr2:40677000-40679800	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr2:40677000-40679800	Active TSS	Aorta	Aorta
12	chr2:40677000-40679800	Active TSS	Brain Germinal Matrix	brain
13	chr2:40677000-40679800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr2:40677000-40680000	Active TSS	Brain Cingulate Gyrus	brain
15	chr2:40677000-40680000	Active TSS	Fetal Kidney	kidney
16	chr2:40677000-40680000	Active TSS	Fetal Stomach	stomach
17	chr2:40677000-40680000	Active TSS	NH-A	brain
18	chr2:40677000-40680000	Active TSS	NHDF-Ad	bronchial
19	chr2:40677000-40680200	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr2:40677200-40679600	Active TSS	Thymus	Thymus
21	chr2:40677200-40679800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr2:40677200-40679800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:40677200-40679800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:40677200-40679800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:40677200-40679800	Active TSS	Ovary	ovary
26	chr2:40677200-40679800	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr2:40677200-40679800	Active TSS	Rectal Smooth Muscle	rectum
28	chr2:40677400-40679600	Active TSS	Dnd41	blood
29	chr2:40677400-40679600	Active TSS	HMEC	breast
30	chr2:40677400-40679800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr2:40677400-40679800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:40677400-40679800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr2:40677400-40679800	Active TSS	Colon Smooth Muscle	Colon
34	chr2:40677400-40680000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:40677400-40680000	Active TSS	Brain Substantia Nigra	brain
36	chr2:40677600-40679600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr2:40677600-40679600	Active TSS	Fetal Brain Male	brain
38	chr2:40677600-40679800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:40677600-40679800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr2:40677600-40679800	Active TSS	Right Atrium	heart
41	chr2:40677600-40679800	Active TSS	HSMMtube	muscle
42	chr2:40677600-40680000	Active TSS	HSMM	muscle
43	chr2:40677800-40679600	Active TSS	Gastric	stomach
44	chr2:40677800-40679800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
45	chr2:40677800-40679800	Active TSS	H9 Cell Line	embryonic stem cell
46	chr2:40677800-40679800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:40677800-40679800	Active TSS	Osteobl	bone
48	chr2:40678000-40679600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr2:40678000-40679600	Active TSS	Primary monocytes fromperipheralblood	blood
50	chr2:40678000-40679600	Active TSS	Muscle Satellite Cultured Cells	--

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