Variant report

Variant	rs3806385
Chromosome Location	chr1:70875835-70875836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:70875817-70878169	Hela-S3	cervix:	n/a	chr1:70877957-70877968
2	NRF1	chr1:70875695-70877205	SK-N-SH	brain:	n/a	n/a
3	TBP	chr1:70875791-70877399	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:70875699-70878933	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAZ	chr1:70875807-70877339	GM12878	blood:	n/a	n/a
6	SP1	chr1:70875812-70876242	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD1	chr1:70875776-70877997	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:70819015..70821620-chr1:70875663..70878848,3	MCF-7	breast:
2	chr1:70818087..70822177-chr1:70874224..70879265,8	K562	blood:
3	chr1:70818443..70821962-chr1:70874400..70876118,3	MCF-7	breast:
4	chr1:70814842..70821925-chr1:70874223..70879265,8	K562	blood:

No data

Variant related genes	Relation type
CTH	TF binding region
ENSG00000197568	Chromatin interaction
ENSG00000118454	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12566820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3767209	0.81[CEU][hapmap]
rs55672048	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55687135	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55813979	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58125419	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61782679	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61782680	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61782717	1.00[AFR][1000 genomes]
rs61785279	0.86[AFR][1000 genomes]
rs6413469	0.81[AMR][1000 genomes]
rs6413472	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7552694	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv830137	chr1:70765921-70958718	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	esv1797324	chr1:70858435-70876569	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	n/a
4	nsv871100	chr1:70859397-70928786	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70872800-70876000	Weak transcription	Adipose Nuclei	Adipose
2	chr1:70874800-70876200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:70875400-70876000	Active TSS	HepG2	liver
4	chr1:70875600-70876000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr1:70875600-70876000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:70875600-70876400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:70875600-70878000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:70875800-70876000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:70875800-70876000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:70875800-70876000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:70875800-70876000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:70875800-70876000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:70875800-70876000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr1:70875800-70876000	Enhancers	Primary T cells from cord blood	blood
15	chr1:70875800-70876000	Enhancers	Primary hematopoietic stem cells	blood
16	chr1:70875800-70876000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:70875800-70876000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:70875800-70876000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr1:70875800-70876000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr1:70875800-70876000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:70875800-70876000	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr1:70875800-70876000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:70875800-70876000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:70875800-70876000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:70875800-70876000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:70875800-70876000	Enhancers	Fetal Heart	heart
27	chr1:70875800-70876000	Enhancers	Fetal Intestine Small	intestine
28	chr1:70875800-70876000	Enhancers	Fetal Lung	lung
29	chr1:70875800-70876000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr1:70875800-70876000	Enhancers	HMEC	breast
31	chr1:70875800-70876000	Enhancers	HUVEC	blood vessel
32	chr1:70875800-70876000	Active TSS	NH-A	brain
33	chr1:70875800-70876000	Enhancers	NHDF-Ad	bronchial
34	chr1:70875800-70876000	Enhancers	NHEK	skin
35	chr1:70875800-70876200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr1:70875800-70876200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr1:70875800-70876200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr1:70875800-70876200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr1:70875800-70876200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:70875800-70876200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr1:70875800-70876200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr1:70875800-70876200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr1:70875800-70876200	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr1:70875800-70876200	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr1:70875800-70876200	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr1:70875800-70876200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr1:70875800-70876200	Flanking Active TSS	Fetal Brain Female	brain
48	chr1:70875800-70876200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr1:70875800-70876200	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr1:70875800-70876200	Flanking Active TSS	A549	lung

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