Variant report

Variant	rs2060717
Chromosome Location	chr7:128380749-128380750
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:128298702..128300846-chr7:128378149..128381069,2	K562	blood:
2	chr7:128315703..128318662-chr7:128379555..128382281,2	K562	blood:
3	chr7:128380482..128382260-chr7:128500614..128502714,2	K562	blood:
4	chr7:128379324..128380984-chr7:128415306..128417614,2	MCF-7	breast:
5	chr7:128377582..128380941-chr7:128428271..128432345,5	MCF-7	breast:
6	chr7:128346237..128350299-chr7:128378242..128382310,4	K562	blood:
7	chr2:55495959..55496950-chr7:128379933..128380918,2	Hela-S3	cervix:
8	chr7:128379972..128381872-chr7:128430216..128431981,2	K562	blood:
9	chr7:128346113..128353140-chr7:128377714..128381349,8	K562	blood:
10	chr7:128329959..128331966-chr7:128379518..128382115,2	K562	blood:
11	chr7:128378469..128380810-chr7:128693859..128695974,3	K562	blood:
12	chr7:128378436..128380799-chr7:128502604..128504414,2	MCF-7	breast:
13	chr7:128380715..128382907-chr7:128398864..128401671,2	K562	blood:
14	chr7:128380224..128382461-chr8:61817210..61818710,2	K562	blood:
15	chr7:128377200..128382703-chr7:128468662..128475122,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128591	Chromatin interaction
ENSG00000242902	Chromatin interaction
ENSG00000271377	Chromatin interaction
ENSG00000128524	Chromatin interaction
ENSG00000128617	Chromatin interaction
ENSG00000244218	Chromatin interaction
ENSG00000064419	Chromatin interaction
ENSG00000135248	Chromatin interaction
ENSG00000271529	Chromatin interaction
ENSG00000085760	Chromatin interaction
ENSG00000271344	Chromatin interaction
ENSG00000128595	Chromatin interaction
ENSG00000128596	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17164371	1.00[ASW][hapmap]
rs4731512	1.00[ASW][hapmap];0.84[EUR][1000 genomes]
rs7780294	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1016979	chr7:128333070-128534438	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 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	chr7:128378200-128381000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:128378400-128381400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr7:128378600-128381000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:128378600-128381000	Active TSS	Psoas Muscle	Psoas
5	chr7:128378600-128381000	Active TSS	Right Ventricle	heart
6	chr7:128378600-128381200	Active TSS	H1 Cell Line	embryonic stem cell
7	chr7:128378600-128381400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr7:128378600-128381400	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:128378600-128381400	Active TSS	Fetal Muscle Trunk	muscle
10	chr7:128378800-128380800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:128378800-128380800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr7:128378800-128380800	Active TSS	NHDF-Ad	bronchial
13	chr7:128378800-128381000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:128378800-128381000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr7:128378800-128381000	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr7:128378800-128381000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:128378800-128381000	Active TSS	NHLF	lung
18	chr7:128378800-128381200	Active TSS	Aorta	Aorta
19	chr7:128378800-128381400	Active TSS	Left Ventricle	heart
20	chr7:128378800-128382600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:128379000-128380800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:128379000-128380800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:128379000-128380800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:128379000-128381000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:128379000-128381000	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr7:128379000-128381000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:128379000-128381000	Active TSS	Muscle Satellite Cultured Cells	--
28	chr7:128379000-128381000	Active TSS	Fetal Kidney	kidney
29	chr7:128379000-128381000	Active TSS	Fetal Muscle Leg	muscle
30	chr7:128379000-128381000	Active TSS	A549	lung
31	chr7:128379000-128381000	Active TSS	HSMMtube	muscle
32	chr7:128379000-128381000	Active TSS	NH-A	brain
33	chr7:128379000-128381000	Active TSS	Osteobl	bone
34	chr7:128379000-128381400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:128379000-128382200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:128379000-128382400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:128379200-128380800	Active TSS	HMEC	breast
38	chr7:128379200-128381000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:128379200-128381000	Active TSS	HSMM	muscle
40	chr7:128379600-128380800	Active TSS	Colonic Mucosa	Colon
41	chr7:128379600-128381800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr7:128379800-128380800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr7:128379800-128380800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr7:128379800-128381000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:128379800-128381400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr7:128379800-128381600	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr7:128380000-128380800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:128380000-128380800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr7:128380000-128381000	Active TSS	Right Atrium	heart
50	chr7:128380000-128381200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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