Variant report

Variant	rs7799635
Chromosome Location	chr7:6515150-6515151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6509730..6517655-chr7:6520090..6524473,18	K562	blood:
2	chr7:6487637..6489656-chr7:6514192..6516850,2	MCF-7	breast:
3	chr7:6505053..6507706-chr7:6514500..6517460,3	K562	blood:
4	chr7:6486127..6488244-chr7:6514542..6517106,2	K562	blood:
5	chr7:6499717..6507603-chr7:6511410..6517764,12	K562	blood:
6	chr7:6492564..6494087-chr7:6514495..6516683,2	K562	blood:
7	chr7:6402943..6405122-chr7:6514612..6517402,2	K562	blood:

Variant related genes	Relation type
ENSG00000269781	Chromatin interaction
ENSG00000164535	Chromatin interaction
ENSG00000136240	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11768365	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2049342	0.81[CEU][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs28757802	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2881698	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs2881699	0.83[EUR][1000 genomes]
rs35158877	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62454712	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6796	0.81[YRI][hapmap]
rs6962012	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9640023	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][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	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
12	nsv830895	chr7:6514781-6722092	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7799635	KDELR2	Cis_1M	lymphoblastoid	RTeQTL
rs7799635	KDELR2	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6497800-6515600	Weak transcription	Psoas Muscle	Psoas
2	chr7:6499600-6515200	Strong transcription	Fetal Intestine Large	intestine
3	chr7:6499600-6516200	Strong transcription	Fetal Stomach	stomach
4	chr7:6499600-6521800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:6499800-6515600	Strong transcription	NH-A	brain
6	chr7:6499800-6517000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:6500000-6515400	Strong transcription	Muscle Satellite Cultured Cells	--
8	chr7:6500000-6515400	Strong transcription	HUVEC	blood vessel
9	chr7:6500000-6516000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:6500000-6516200	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr7:6500000-6516400	Strong transcription	Fetal Thymus	thymus
12	chr7:6500200-6515200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:6500200-6515400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr7:6500200-6516200	Strong transcription	Placenta	Placenta
15	chr7:6500200-6516400	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:6500800-6517000	Strong transcription	Dnd41	blood
17	chr7:6501200-6516000	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr7:6502800-6515200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:6503600-6515600	Strong transcription	Osteobl	bone
20	chr7:6503600-6522800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr7:6505000-6521400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr7:6505200-6515400	Strong transcription	NHLF	lung
23	chr7:6506400-6516000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:6506800-6516600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:6507000-6519400	Weak transcription	Fetal Heart	heart
26	chr7:6507400-6516400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr7:6507600-6522400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:6507800-6522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:6508000-6520200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:6508000-6522000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:6509000-6516200	Strong transcription	NHDF-Ad	bronchial
32	chr7:6509200-6517600	Strong transcription	K562	blood
33	chr7:6509200-6521400	Strong transcription	NHEK	skin
34	chr7:6509400-6516600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:6509800-6519600	Weak transcription	Fetal Kidney	kidney
36	chr7:6509800-6522000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:6510200-6516800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:6510200-6518800	Weak transcription	Small Intestine	intestine
39	chr7:6510200-6519600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr7:6510200-6522200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr7:6510200-6522400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:6510200-6522600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr7:6510400-6519800	Weak transcription	Brain Anterior Caudate	brain
44	chr7:6511000-6516000	Strong transcription	Primary T cells from cord blood	blood
45	chr7:6511200-6516600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:6511600-6515200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:6511600-6521600	Weak transcription	Fetal Brain Male	brain
48	chr7:6512000-6515200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:6512200-6520800	Weak transcription	Esophagus	oesophagus
50	chr7:6512600-6516200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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