Variant report

Variant	rs6587639
Chromosome Location	chr1:151940536-151940537
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151940172..151941244-chr1:151973793..151974812,6	K562	blood:
2	chr1:151940233..151941061-chr1:151972691..151973628,2	MCF-7	breast:
3	chr1:151939559..151942218-chr1:152018878..152020533,2	MCF-7	breast:
4	chr1:151860776..151864550-chr1:151939132..151941860,5	MCF-7	breast:
5	chr1:151940175..151941918-chr1:151973877..151975421,25	MCF-7	breast:
6	chr1:151940500..151941079-chr1:151961205..151961964,2	MCF-7	breast:
7	chr1:151939609..151941255-chr1:151968656..151969951,15	MCF-7	breast:
8	chr1:151861330..151862021-chr1:151940185..151941034,3	MCF-7	breast:
9	chr1:151918309..151920987-chr1:151938809..151942058,3	MCF-7	breast:
10	chr1:151939365..151942240-chr1:151972408..151973945,2	K562	blood:
11	chr1:151939119..151942240-chr1:151972408..151975216,4	K562	blood:
12	chr1:151940197..151940785-chr17:62713976..62714476,2	MCF-7	breast:
13	chr1:151940219..151941099-chr1:151976121..151977198,6	MCF-7	breast:
14	chr1:151926747..151929473-chr1:151939823..151942198,2	MCF-7	breast:
15	chr1:151905958..151908802-chr1:151940211..151943154,2	K562	blood:
16	chr1:151920531..151923410-chr1:151938678..151941619,2	K562	blood:
17	chr1:151940183..151941316-chr1:151968276..151970256,10	MCF-7	breast:
18	chr1:151940137..151941111-chr1:151965057..151965594,2	MCF-7	breast:
19	chr1:151940216..151941117-chr1:151968763..151970328,7	K562	blood:
20	chr1:151906078..151907253-chr1:151940236..151940889,4	MCF-7	breast:
21	chr1:151940273..151941099-chr1:152006792..152007503,2	MCF-7	breast:
22	chr1:151940130..151941674-chr1:151973866..151975241,10	MCF-7	breast:
23	chr1:151940215..151941175-chr1:151965901..151967410,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000159445	Chromatin interaction
ENSG00000223810	Chromatin interaction
ENSG00000229021	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000197747	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12064020	0.89[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12067912	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16828432	0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833610	0.89[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833734	1.00[EUR][1000 genomes]
rs16833865	1.00[EUR][1000 genomes]
rs16833870	1.00[EUR][1000 genomes]
rs16833876	1.00[EUR][1000 genomes]
rs1826173	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2337687	0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41363352	1.00[EUR][1000 genomes]
rs56024264	1.00[EUR][1000 genomes]
rs56124007	1.00[EUR][1000 genomes]
rs56156422	1.00[EUR][1000 genomes]
rs57934636	1.00[EUR][1000 genomes]
rs58132665	1.00[EUR][1000 genomes]
rs60525930	1.00[EUR][1000 genomes]
rs6671719	1.00[AMR][1000 genomes]
rs74126341	1.00[EUR][1000 genomes]
rs74126343	1.00[EUR][1000 genomes]
rs74127703	1.00[EUR][1000 genomes]
rs74127885	1.00[EUR][1000 genomes]
rs74127887	1.00[EUR][1000 genomes]
rs7532162	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7533854	0.89[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7548044	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs998750	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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151930800-151940800	Weak transcription	NHDF-Ad	bronchial
2	chr1:151933600-151945000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:151934000-151940600	Weak transcription	Gastric	stomach
4	chr1:151934200-151940600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:151934200-151942600	Weak transcription	HSMM	muscle
6	chr1:151934600-151940600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:151934600-151953400	Weak transcription	Psoas Muscle	Psoas
8	chr1:151936000-151945000	Weak transcription	HSMMtube	muscle
9	chr1:151937200-151940600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:151937200-151940600	Weak transcription	Left Ventricle	heart
11	chr1:151937200-151940600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:151937200-151940800	Weak transcription	Spleen	Spleen
13	chr1:151937200-151945000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:151937400-151940600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:151937400-151940600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:151937400-151940600	Weak transcription	Lung	lung
17	chr1:151938400-151942600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:151938400-151945000	Enhancers	HMEC	breast
19	chr1:151938400-151946200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:151938800-151942200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:151938800-151942400	Enhancers	HUVEC	blood vessel
22	chr1:151939200-151940800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr1:151939600-151950800	Enhancers	Fetal Intestine Small	intestine
24	chr1:151939800-151941200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:151939800-151943000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:151940200-151941000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr1:151940200-151941000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:151940200-151941000	Enhancers	Dnd41	blood
29	chr1:151940200-151941200	Enhancers	Primary T cells fromperipheralblood	blood
30	chr1:151940200-151941200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:151940200-151941200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr1:151940200-151941400	Enhancers	Stomach Mucosa	stomach
33	chr1:151940200-151941600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr1:151940200-151941800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr1:151940200-151942000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:151940200-151942000	Enhancers	Duodenum Mucosa	Duodenum
37	chr1:151940200-151942000	Enhancers	Fetal Intestine Large	intestine
38	chr1:151940200-151942600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:151940200-151942800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:151940200-151943200	Enhancers	Adipose Nuclei	Adipose
41	chr1:151940400-151940600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr1:151940400-151940600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:151940400-151941000	Enhancers	Primary T cells from cord blood	blood
44	chr1:151940400-151941000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:151940400-151941000	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr1:151940400-151941000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:151940400-151941200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:151940400-151941400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:151940400-151941400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr1:151940400-151941400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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