Variant report

Variant	rs4396867
Chromosome Location	chr3:42870395-42870396
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:42863918..42866711-chr3:42866825..42870903,9	MCF-7	breast:
2	chr3:42866915..42869697-chr3:42869826..42874147,5	K562	blood:
3	chr3:42863648..42866062-chr3:42870307..42872848,2	K562	blood:
4	chr3:42621913..42623887-chr3:42869494..42872391,2	MCF-7	breast:
5	chr3:42819275..42824150-chr3:42869754..42873104,6	MCF-7	breast:
6	chr3:42795565..42797413-chr3:42869940..42872735,2	MCF-7	breast:
7	chr3:42866999..42869697-chr3:42869826..42873026,3	K562	blood:
8	chr3:42860498..42863136-chr3:42870179..42871848,2	K562	blood:
9	chr3:42854558..42863000-chr3:42863307..42874321,18	MCF-7	breast:
10	chr3:42869285..42872521-chr3:42879502..42882815,4	MCF-7	breast:
11	chr3:42823380..42825503-chr3:42869037..42871310,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000008324	Chromatin interaction
ENSG00000093183	Chromatin interaction
ENSG00000144648	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11718847	0.82[MEX][hapmap]
rs34543107	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34582006	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35247064	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35367066	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55953104	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6767710	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1847016	chr3:42855765-42880490	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4396867	NKTR	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42861600-42873000	Weak transcription	Esophagus	oesophagus
2	chr3:42861600-42885400	Weak transcription	Pancreas	Pancrea
3	chr3:42861800-42872600	Weak transcription	Brain Anterior Caudate	brain
4	chr3:42862400-42872800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:42863000-42871000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:42865200-42870400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:42865400-42870600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:42865400-42871000	Weak transcription	Adipose Nuclei	Adipose
9	chr3:42865400-42872200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:42867200-42870400	Enhancers	HepG2	liver
11	chr3:42868400-42874200	Enhancers	Liver	Liver
12	chr3:42868600-42873200	Enhancers	HMEC	breast
13	chr3:42869000-42870600	Enhancers	Fetal Intestine Large	intestine
14	chr3:42869000-42870800	Enhancers	Fetal Intestine Small	intestine
15	chr3:42869000-42871200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr3:42869000-42872400	Enhancers	Stomach Mucosa	stomach
17	chr3:42869200-42870600	Enhancers	Duodenum Mucosa	Duodenum
18	chr3:42869400-42870400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:42869400-42870400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:42869400-42870400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:42869400-42870400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:42869400-42870600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:42869400-42870600	Weak transcription	NHEK	skin
24	chr3:42869400-42877000	Weak transcription	K562	blood
25	chr3:42869800-42870600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr3:42869800-42871400	Enhancers	Colonic Mucosa	Colon
27	chr3:42869800-42871400	Enhancers	Placenta	Placenta
28	chr3:42870000-42870400	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr3:42870200-42871400	Enhancers	Hela-S3	cervix
30	chr3:42870200-42871800	Enhancers	Rectal Mucosa Donor 29	rectum

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