Variant report

Variant	rs219765
Chromosome Location	chr21:37836711-37836712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:37835819..37837846-chr21:37849702..37852349,2	MCF-7	breast:
2	chr21:37830343..37833071-chr21:37835621..37838183,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs170182	0.90[CHB][hapmap];0.92[JPT][hapmap];0.92[YRI][hapmap];0.91[ASN][1000 genomes]
rs219759	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2249115	0.90[CHB][hapmap];0.83[CHD][hapmap];0.92[JPT][hapmap];0.85[MKK][hapmap];0.92[YRI][hapmap];0.90[ASN][1000 genomes]
rs2633334	0.90[ASN][1000 genomes]
rs2845764	0.89[ASN][1000 genomes]
rs2845766	0.90[CHB][hapmap];0.92[JPT][hapmap];0.92[YRI][hapmap];0.90[ASN][1000 genomes]
rs2845769	0.90[CHB][hapmap];0.81[CHD][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs2850102	0.94[ASN][1000 genomes]
rs2850108	0.91[ASN][1000 genomes]
rs2850110	0.90[ASN][1000 genomes]
rs35599107	0.80[ASN][1000 genomes]
rs35857368	0.82[ASN][1000 genomes]
rs59059205	0.83[ASN][1000 genomes]
rs59285877	0.83[ASN][1000 genomes]
rs59724458	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv33286	chr21:37827016-37861556	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv587470	chr21:37834641-37872447	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs219765	CLDN14	cis	lymphoblastoid	seeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37824800-37836800	Weak transcription	Right Atrium	heart
2	chr21:37827200-37837200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr21:37827400-37836800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:37832800-37837000	Weak transcription	HSMMtube	muscle
5	chr21:37832800-37837200	Weak transcription	NH-A	brain
6	chr21:37833000-37837400	Weak transcription	Osteobl	bone
7	chr21:37833800-37838400	Enhancers	Liver	Liver
8	chr21:37834200-37836800	Weak transcription	Esophagus	oesophagus
9	chr21:37834200-37838000	Weak transcription	Gastric	stomach
10	chr21:37834400-37837400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr21:37834400-37842600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr21:37834600-37836800	Weak transcription	A549	lung
13	chr21:37834600-37837000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr21:37834600-37837000	Weak transcription	Fetal Kidney	kidney
15	chr21:37834800-37836800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr21:37834800-37836800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr21:37834800-37836800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr21:37834800-37836800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr21:37834800-37837200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr21:37834800-37838600	Weak transcription	Pancreas	Pancrea
21	chr21:37834800-37841600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr21:37834800-37842400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr21:37835000-37836800	Weak transcription	Fetal Heart	heart
24	chr21:37835000-37842000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr21:37835200-37836800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr21:37836200-37836800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr21:37836200-37839600	Enhancers	HUVEC	blood vessel
28	chr21:37836400-37837400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr21:37836400-37837600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr21:37836400-37838400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr21:37836600-37838000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr21:37836600-37838400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr21:37836600-37838400	Enhancers	Fetal Muscle Leg	muscle

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