Variant report

Variant	rs2881698
Chromosome Location	chr7:6544691-6544692
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6414882..6417650-chr7:6542443..6546000,3	MCF-7	breast:
2	chr7:6521451..6526537-chr7:6541616..6547791,14	MCF-7	breast:
3	chr17:55528969..55531188-chr7:6542980..6544894,2	MCF-7	breast:
4	chr7:6542151..6545329-chr7:6615241..6617265,3	K562	blood:
5	chr7:6522337..6524449-chr7:6542969..6544719,2	K562	blood:
6	chr7:6530076..6532868-chr7:6542072..6546078,3	K562	blood:
7	chr7:6519406..6527633-chr7:6541095..6545327,10	MCF-7	breast:
8	chr7:6541964..6545996-chr7:6546800..6549452,3	K562	blood:

Variant related genes	Relation type
ENSG00000136240	Chromatin interaction
ENSG00000136247	Chromatin interaction
ENSG00000231359	Chromatin interaction
ENSG00000269781	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11768365	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2049342	0.85[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs28631414	0.97[ASN][1000 genomes]
rs28757802	0.89[EUR][1000 genomes]
rs2881699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34841180	0.91[ASN][1000 genomes]
rs60239513	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6463569	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6962012	0.83[EUR][1000 genomes]
rs7791451	0.97[ASN][1000 genomes]
rs7799635	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs9640023	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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
13	nsv887429	chr7:6520676-6659509	Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	nsv887430	chr7:6520676-6668027	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
15	nsv508444	chr7:6534110-6700527	Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
16	nsv1025220	chr7:6534278-6736802	Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
17	nsv538717	chr7:6534278-6736802	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
18	nsv887431	chr7:6535517-6690240	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
19	nsv515978	chr7:6535517-6698905	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
20	nsv887432	chr7:6535517-6713985	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
21	esv3424341	chr7:6541877-6545575	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2881698	KDELR2	Cis_1M	lymphoblastoid	RTeQTL
rs2881698	KDELR2	cis	multi-tissue	Pritchard

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6540400-6545400	Weak transcription	Fetal Heart	heart
2	chr7:6542600-6544800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:6542600-6545000	Active TSS	Rectal Smooth Muscle	rectum
4	chr7:6542800-6544800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:6542800-6544800	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr7:6542800-6544800	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chr7:6542800-6545000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr7:6542800-6545000	Active TSS	Fetal Intestine Small	intestine
9	chr7:6543000-6544800	Active TSS	Brain Anterior Caudate	brain
10	chr7:6543000-6544800	Active TSS	Fetal Kidney	kidney
11	chr7:6543000-6545000	Active TSS	Primary T cells from cord blood	blood
12	chr7:6543200-6545000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr7:6543200-6545000	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr7:6543400-6544800	Active TSS	Hela-S3	cervix
15	chr7:6543600-6544800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
16	chr7:6543800-6545000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr7:6544000-6544800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr7:6544000-6544800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr7:6544000-6544800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:6544000-6544800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
21	chr7:6544000-6545000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:6544200-6544800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr7:6544200-6544800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr7:6544200-6544800	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr7:6544200-6544800	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr7:6544200-6544800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr7:6544200-6544800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr7:6544200-6544800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:6544200-6544800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:6544200-6544800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:6544200-6544800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:6544200-6544800	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr7:6544200-6544800	Flanking Active TSS	Colonic Mucosa	Colon
34	chr7:6544200-6544800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
35	chr7:6544200-6544800	Bivalent Enhancer	Fetal Brain Male	brain
36	chr7:6544200-6544800	Flanking Active TSS	Stomach Mucosa	stomach
37	chr7:6544200-6544800	Flanking Active TSS	Dnd41	blood
38	chr7:6544200-6544800	Flanking Active TSS	GM12878-XiMat	blood
39	chr7:6544200-6544800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr7:6544200-6544800	Flanking Active TSS	NHEK	skin
41	chr7:6544200-6545000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr7:6544200-6545000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:6544200-6545000	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr7:6544200-6545200	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr7:6544400-6544800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
46	chr7:6544400-6544800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr7:6544400-6544800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:6544400-6544800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr7:6544400-6544800	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr7:6544400-6544800	Flanking Active TSS	Esophagus	oesophagus

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