Variant report

Variant	rs572359708
Chromosome Location	chr5:60629448-60629449
allele	G/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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:60608445..60610202-chr5:60628831..60630398,2	MCF-7	breast:
2	chr5:60626862..60630406-chr5:60642263..60646074,4	MCF-7	breast:
3	chr5:60454421..60471345-chr5:60622342..60633215,36	MCF-7	breast:
4	chr5:59994332..59996148-chr5:60627447..60629730,3	K562	blood:
5	chr5:60454193..60465680-chr5:60622262..60629761,38	MCF-7	breast:
6	chr5:60456578..60458142-chr5:60626719..60629470,2	K562	blood:
7	chr5:60616098..60618418-chr5:60628715..60630445,3	K562	blood:
8	chr5:60628335..60630903-chr5:60650780..60653368,3	K562	blood:
9	chr5:60629276..60630021-chr5:60916827..60917341,2	MCF-7	breast:
10	chr5:60616605..60619151-chr5:60628715..60631472,3	K562	blood:
11	chr5:60473013..60474632-chr5:60628436..60631352,3	MCF-7	breast:
12	chr5:60628107..60631036-chr5:60638453..60640753,2	K562	blood:
13	chr5:59994210..59996553-chr5:60627404..60629725,2	MCF-7	breast:
14	chr5:60318175..60320382-chr5:60629060..60630909,2	K562	blood:
15	chr5:60628464..60630386-chr5:60657192..60659547,2	MCF-7	breast:
16	chr5:60628455..60630619-chr5:61175090..61177005,2	MCF-7	breast:
17	chr5:60456297..60461829-chr5:60626718..60632720,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251682	Chromatin interaction
ENSG00000188725	Chromatin interaction
ENSG00000035499	Chromatin interaction
ENSG00000251279	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv823089	chr5:60589501-60669903	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv19714	chr5:60625377-60629756	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv3471610	chr5:60625845-60630243	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv3471611	chr5:60625845-60630243	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv3502265	chr5:60626270-60630343	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv3502266	chr5:60626270-60630343	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv1815974	chr5:60626344-60664356	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	esv3468477	chr5:60626820-60630568	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	esv3468478	chr5:60626820-60630568	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	esv1797558	chr5:60626957-60629599	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	esv1802877	chr5:60626957-60629599	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	esv1803463	chr5:60626957-60629599	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	esv1809809	chr5:60626957-60629599	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	esv1814309	chr5:60626957-60629599	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	esv1822742	chr5:60626957-60629599	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	esv1838505	chr5:60626957-60629599	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
18	esv1844705	chr5:60626957-60629599	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
19	nsv598317	chr5:60626957-60629599	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
20	nsv598318	chr5:60626957-60629903	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
21	nsv598319	chr5:60626957-60636828	Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
22	nsv598321	chr5:60627846-60629903	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60625200-60630800	Active TSS	Colonic Mucosa	Colon
2	chr5:60625400-60631000	Active TSS	Brain Hippocampus Middle	brain
3	chr5:60625600-60630600	Active TSS	Colon Smooth Muscle	Colon
4	chr5:60625600-60630800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:60625600-60630800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:60625600-60631000	Active TSS	Brain Anterior Caudate	brain
7	chr5:60625800-60630000	Active TSS	Fetal Lung	lung
8	chr5:60625800-60630200	Active TSS	Sigmoid Colon	Sigmoid Colon
9	chr5:60625800-60630400	Active TSS	Fetal Brain Female	brain
10	chr5:60625800-60630800	Active TSS	NHDF-Ad	bronchial
11	chr5:60625800-60631000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr5:60625800-60631000	Active TSS	HSMM	muscle
13	chr5:60626000-60629600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:60626000-60629800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:60626000-60629800	Active TSS	Primary T cells from cord blood	blood
16	chr5:60626000-60630000	Active TSS	Psoas Muscle	Psoas
17	chr5:60626000-60630000	Active TSS	Rectal Smooth Muscle	rectum
18	chr5:60626000-60630000	Active TSS	Hela-S3	cervix
19	chr5:60626000-60630200	Active TSS	Pancreas	Pancrea
20	chr5:60626000-60630400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:60626000-60630600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:60626000-60630800	Active TSS	Aorta	Aorta
23	chr5:60626000-60630800	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr5:60626000-60630800	Active TSS	Ovary	ovary
25	chr5:60626000-60630800	Active TSS	Right Atrium	heart
26	chr5:60626000-60631000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:60626000-60631000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:60626000-60631200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:60626000-60631200	Active TSS	Brain Cingulate Gyrus	brain
30	chr5:60626000-60631200	Active TSS	Right Ventricle	heart
31	chr5:60626000-60631400	Active TSS	Fetal Kidney	kidney
32	chr5:60626000-60631600	Active TSS	NHLF	lung
33	chr5:60626200-60629800	Active TSS	H9 Cell Line	embryonic stem cell
34	chr5:60626200-60629800	Active TSS	Spleen	Spleen
35	chr5:60626200-60630000	Active TSS	Fetal Intestine Large	intestine
36	chr5:60626200-60630000	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr5:60626200-60630200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:60626200-60630200	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr5:60626200-60630200	Active TSS	Gastric	stomach
40	chr5:60626200-60630200	Active TSS	Small Intestine	intestine
41	chr5:60626200-60630200	Active TSS	A549	lung
42	chr5:60626200-60630400	Active TSS	Brain Substantia Nigra	brain
43	chr5:60626200-60630800	Active TSS	Osteobl	bone
44	chr5:60626200-60631000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:60626200-60631000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:60626200-60631200	Active TSS	Brain Angular Gyrus	brain
47	chr5:60626200-60631200	Active TSS	Left Ventricle	heart
48	chr5:60626400-60629600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:60626400-60630000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:60626400-60630000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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