Variant report

Variant	rs6980213
Chromosome Location	chr7:129598336-129598337
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129464687..129467079-chr7:129598257..129600358,2	MCF-7	breast:
2	chr7:129515155..129517525-chr7:129596999..129598887,2	K562	blood:
3	chr7:129589344..129594008-chr7:129594437..129600591,9	MCF-7	breast:
4	chr7:129598314..129600626-chr7:129608223..129610366,4	MCF-7	breast:
5	chr7:129468198..129471142-chr7:129597545..129600356,2	MCF-7	breast:
6	chr7:129589671..129594526-chr7:129595391..129600667,11	K562	blood:
7	chr7:129597879..129600626-chr7:129664586..129667317,2	K562	blood:
8	chr7:129597539..129599977-chr7:129629318..129630845,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000244036	Chromatin interaction
ENSG00000201109	Chromatin interaction
ENSG00000186591	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10954255	0.92[ASN][1000 genomes]
rs6963861	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6964187	0.81[AFR][1000 genomes]
rs6979616	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7790667	0.90[AFR][1000 genomes]

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	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6980213	TNXB	trans	lymphoblastoid	RTeQTL

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129592800-129598400	Weak transcription	Right Atrium	heart
2	chr7:129592800-129598400	Weak transcription	NHLF	lung
3	chr7:129592800-129608600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:129593000-129598400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr7:129593200-129598400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr7:129593200-129598400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:129593200-129598400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr7:129593400-129598400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:129593400-129598600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:129593400-129608400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:129594200-129598400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr7:129594200-129598600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:129595800-129598400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:129595800-129598400	Weak transcription	HSMMtube	muscle
15	chr7:129596000-129598400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:129596000-129598400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:129596000-129598400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:129596000-129598400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:129597600-129601200	Enhancers	Placenta	Placenta
20	chr7:129597800-129598400	Enhancers	K562	blood
21	chr7:129597800-129599600	Enhancers	Primary hematopoietic stem cells	blood
22	chr7:129597800-129600000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:129597800-129600000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:129597800-129600200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:129598000-129598400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:129598000-129598400	Enhancers	HepG2	liver
27	chr7:129598000-129598600	Enhancers	A549	lung
28	chr7:129598000-129599200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:129598000-129599200	Enhancers	Esophagus	oesophagus
30	chr7:129598000-129599200	Enhancers	Left Ventricle	heart
31	chr7:129598000-129599400	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr7:129598000-129599600	Enhancers	Fetal Muscle Leg	muscle
33	chr7:129598000-129599800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr7:129598000-129599800	Enhancers	Stomach Mucosa	stomach
35	chr7:129598000-129600000	Enhancers	Fetal Intestine Small	intestine
36	chr7:129598000-129600000	Enhancers	HMEC	breast
37	chr7:129598000-129600000	Enhancers	HUVEC	blood vessel
38	chr7:129598000-129600200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:129598000-129600200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr7:129598000-129600400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:129598200-129598400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:129598200-129598400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:129598200-129598400	Enhancers	Osteobl	bone
44	chr7:129598200-129599000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr7:129598200-129599000	Enhancers	Right Ventricle	heart
46	chr7:129598200-129599200	Flanking Active TSS	NHEK	skin
47	chr7:129598200-129599400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:129598200-129599400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr7:129598200-129599600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr7:129598200-129599600	Enhancers	Fetal Heart	heart

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