Variant report

Variant	rs6668331
Chromosome Location	chr1:246845170-246845171
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	EBF1	chr1:246845165-246845423	GM12878	blood:	n/a	chr1:246845313-246845324 chr1:246845315-246845324
2	GATA2	chr1:246845141-246845539	SH-SY5Y	brain:	n/a	n/a
3	CTCF	chr1:246845140-246845290	HBMEC	blood vessel:	n/a	n/a
4	MAX	chr1:246845149-246845468	NB4	blood:	n/a	n/a
5	MYC	chr1:246845155-246845490	NB4	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000260698	TF binding region

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13375572	1.00[AMR][1000 genomes]
rs35286882	1.00[AMR][1000 genomes]
rs4551565	1.00[AMR][1000 genomes]
rs4654298	1.00[AMR][1000 genomes]
rs7547545	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948348	chr1:246090818-246853200	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1002805	chr1:246608164-246890518	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv535413	chr1:246608164-246890518	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv1002595	chr1:246774036-246846548	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1007194	chr1:246813090-246855424	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246822200-246845200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:246829600-246845200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:246829800-246845200	Weak transcription	Fetal Lung	lung
4	chr1:246829800-246845200	Weak transcription	Ovary	ovary
5	chr1:246829800-246853000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:246830200-246853000	Weak transcription	Fetal Brain Female	brain
7	chr1:246832400-246853000	Weak transcription	Thymus	Thymus
8	chr1:246832400-246856400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:246833400-246845200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:246833800-246845200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:246833800-246850000	Weak transcription	Primary T cells from cord blood	blood
12	chr1:246840000-246845400	Enhancers	Fetal Intestine Small	intestine
13	chr1:246840800-246845200	Weak transcription	Colonic Mucosa	Colon
14	chr1:246841400-246845200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:246841400-246845200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:246841400-246845400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr1:246842200-246847000	Enhancers	Fetal Muscle Leg	muscle
18	chr1:246842400-246845800	Enhancers	NHLF	lung
19	chr1:246842400-246846400	Enhancers	Fetal Muscle Trunk	muscle
20	chr1:246842400-246846400	Enhancers	Fetal Stomach	stomach
21	chr1:246842400-246850800	Enhancers	Placenta	Placenta
22	chr1:246842800-246845400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:246842800-246845400	Enhancers	Psoas Muscle	Psoas
24	chr1:246843000-246845200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:246843000-246846200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:246843400-246846400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:246843800-246846200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:246843800-246846200	Enhancers	Right Atrium	heart
29	chr1:246843800-246846200	Enhancers	NHDF-Ad	bronchial
30	chr1:246844000-246845200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:246844200-246845400	Enhancers	Brain Anterior Caudate	brain
32	chr1:246844200-246853000	Weak transcription	Left Ventricle	heart
33	chr1:246844200-246853000	Weak transcription	HUVEC	blood vessel
34	chr1:246844400-246845800	Enhancers	Adipose Nuclei	Adipose
35	chr1:246844400-246845800	Weak transcription	Colon Smooth Muscle	Colon
36	chr1:246844400-246846400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr1:246844400-246852800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:246844600-246845200	Weak transcription	Spleen	Spleen
39	chr1:246844600-246845400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr1:246844600-246845600	Enhancers	Brain Cingulate Gyrus	brain
41	chr1:246844600-246845600	Weak transcription	Brain Hippocampus Middle	brain
42	chr1:246844600-246845600	Weak transcription	Brain Substantia Nigra	brain
43	chr1:246844600-246845800	Enhancers	Brain Angular Gyrus	brain
44	chr1:246844600-246845800	Weak transcription	Lung	lung
45	chr1:246844600-246846000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr1:246844600-246846000	Weak transcription	HSMM	muscle
47	chr1:246844600-246846000	Enhancers	HSMMtube	muscle
48	chr1:246844600-246846800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr1:246844600-246853000	Weak transcription	Right Ventricle	heart
50	chr1:246844800-246852600	Weak transcription	Duodenum Mucosa	Duodenum

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