Variant report

Variant	rs1055413
Chromosome Location	chr7:6500782-6500783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6499949..6501557-chr7:6518916..6521343,2	MCF-7	breast:
2	chr7:6499717..6507603-chr7:6511410..6517764,12	K562	blood:
3	chr7:6487071..6489296-chr7:6498689..6501637,2	MCF-7	breast:
4	chr7:6500191..6503008-chr7:6519492..6521377,2	K562	blood:
5	chr7:6486167..6489212-chr7:6498721..6504081,5	MCF-7	breast:
6	chr7:6500350..6502598-chr7:6505904..6507972,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164535	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10277187	1.00[MEX][hapmap]
rs11973422	1.00[AMR][1000 genomes]
rs11977716	1.00[MEX][hapmap]
rs11983749	1.00[AMR][1000 genomes]
rs57533088	1.00[AMR][1000 genomes]
rs73342979	1.00[AMR][1000 genomes]
rs73344908	1.00[AMR][1000 genomes]
rs73344909	1.00[AMR][1000 genomes]
rs73344913	1.00[AMR][1000 genomes]
rs73344920	1.00[AMR][1000 genomes]
rs73344922	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv971152	chr7:6485642-6509340	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv1026878	chr7:6490387-6592374	Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1055413	COL28A1	cis	lymphoblastoid	seeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6488200-6500800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr7:6488400-6505200	Weak transcription	Fetal Brain Male	brain
3	chr7:6488400-6505600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:6488400-6505600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:6488800-6500800	Weak transcription	Primary B cells from cord blood	blood
6	chr7:6488800-6500800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr7:6488800-6501000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:6488800-6505200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:6488800-6505200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:6488800-6505600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:6489000-6501000	Weak transcription	Aorta	Aorta
12	chr7:6489200-6500800	Weak transcription	Dnd41	blood
13	chr7:6489200-6502000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr7:6495400-6501800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:6495600-6501800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:6495800-6501000	Weak transcription	Brain Substantia Nigra	brain
17	chr7:6495800-6501200	Weak transcription	K562	blood
18	chr7:6496400-6501200	Weak transcription	Fetal Lung	lung
19	chr7:6496600-6500800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:6496800-6500800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:6496800-6500800	Weak transcription	Esophagus	oesophagus
22	chr7:6496800-6504600	Weak transcription	Small Intestine	intestine
23	chr7:6497000-6501800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr7:6497200-6500800	Weak transcription	Colonic Mucosa	Colon
25	chr7:6497200-6500800	Weak transcription	Fetal Kidney	kidney
26	chr7:6497400-6500800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:6497600-6501600	Weak transcription	Colon Smooth Muscle	Colon
28	chr7:6497800-6515600	Weak transcription	Psoas Muscle	Psoas
29	chr7:6498000-6505200	Weak transcription	Fetal Heart	heart
30	chr7:6498200-6501200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:6499200-6502600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:6499200-6505600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:6499400-6501600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:6499600-6502800	Strong transcription	Brain Hippocampus Middle	brain
35	chr7:6499600-6505200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:6499600-6506000	Strong transcription	Fetal Intestine Small	intestine
37	chr7:6499600-6510200	Strong transcription	Lung	lung
38	chr7:6499600-6515200	Strong transcription	Fetal Intestine Large	intestine
39	chr7:6499600-6516200	Strong transcription	Fetal Stomach	stomach
40	chr7:6499600-6521800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:6499800-6500800	Strong transcription	Osteobl	bone
42	chr7:6499800-6501200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:6499800-6501800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:6499800-6504400	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:6499800-6505400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:6499800-6505600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:6499800-6505600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:6499800-6505600	Strong transcription	Fetal Brain Female	brain
49	chr7:6499800-6506000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:6499800-6506400	Strong transcription	Fetal Muscle Leg	muscle

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