Variant report

Variant	rs4845417
Chromosome Location	chr1:151944440-151944441
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151943551..151945492-chr1:151999086..152000598,2	K562	blood:
2	chr1:151941976..151947771-chr1:152006202..152009564,7	MCF-7	breast:
3	chr1:151942667..151945612-chr1:151998749..152001571,2	MCF-7	breast:
4	chr1:151879069..151881570-chr1:151943407..151945574,2	K562	blood:
5	chr1:151943172..151945444-chr1:151966089..151968195,2	K562	blood:

Variant related genes	Relation type
ENSG00000197747	Chromatin interaction
ENSG00000229021	Chromatin interaction
ENSG00000163191	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1038745	1.00[AMR][1000 genomes]
rs41264560	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41265240	1.00[AMR][1000 genomes]
rs4845720	1.00[AMR][1000 genomes]
rs4845721	1.00[AMR][1000 genomes]
rs4845722	1.00[AMR][1000 genomes]
rs4845723	1.00[AMR][1000 genomes]
rs4845724	1.00[AMR][1000 genomes]
rs4845725	1.00[AMR][1000 genomes]
rs4845726	1.00[AMR][1000 genomes]
rs4845727	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547852	chr1:151843044-151955230	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases
6	nsv2855	chr1:151936470-151966381	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151933600-151945000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:151934600-151953400	Weak transcription	Psoas Muscle	Psoas
3	chr1:151936000-151945000	Weak transcription	HSMMtube	muscle
4	chr1:151937200-151945000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:151938400-151945000	Enhancers	HMEC	breast
6	chr1:151938400-151946200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:151939600-151950800	Enhancers	Fetal Intestine Small	intestine
8	chr1:151940400-151945000	Enhancers	Hela-S3	cervix
9	chr1:151940800-151945200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:151941000-151944800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:151941000-151945000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:151941000-151945000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:151941000-151946200	Weak transcription	Colonic Mucosa	Colon
14	chr1:151941000-151953200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:151941000-151953200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:151941000-151953400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:151941000-151953400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr1:151941000-151954800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:151941200-151945200	Weak transcription	Placenta	Placenta
20	chr1:151941200-151952800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:151941200-151952800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:151941200-151953000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr1:151941200-151955200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:151941400-151945000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:151941400-151945000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:151941400-151945200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:151941400-151947200	Weak transcription	Liver	Liver
28	chr1:151941600-151945200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:151941600-151961200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:151941800-151945000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:151941800-151945000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:151941800-151945000	Weak transcription	NH-A	brain
33	chr1:151941800-151945200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:151941800-151945400	Weak transcription	Right Atrium	heart
35	chr1:151941800-151949400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:151941800-151953000	Weak transcription	Lung	lung
37	chr1:151941800-151953600	Weak transcription	Gastric	stomach
38	chr1:151941800-151956200	Weak transcription	Pancreas	Pancrea
39	chr1:151942000-151945000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:151942000-151945200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:151942000-151945400	Weak transcription	HepG2	liver
42	chr1:151942200-151944800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:151942200-151945000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:151942400-151944600	Weak transcription	HUVEC	blood vessel
45	chr1:151942400-151951800	Enhancers	Fetal Intestine Large	intestine
46	chr1:151942600-151945800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:151942600-151946800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr1:151942800-151944800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr1:151943000-151945000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:151943000-151945000	Weak transcription	Primary monocytes fromperipheralblood	blood

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