Variant report

Variant	rs17764278
Chromosome Location	chr16:75374029-75374030
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75370846..75373377-chr16:75373417..75376185,2	MCF-7	breast:
2	chr16:75280709..75283499-chr16:75373078..75375460,2	MCF-7	breast:
3	chr16:75362018..75369381-chr16:75372474..75375997,7	MCF-7	breast:
4	chr16:75327825..75330128-chr16:75372649..75375270,2	MCF-7	breast:
5	chr16:75372586..75374670-chr16:75396434..75398139,2	K562	blood:

Variant related genes	Relation type
ENSG00000050820	Chromatin interaction
ENSG00000153774	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56258397	0.89[EUR][1000 genomes]
rs7187690	0.83[AMR][1000 genomes]
rs7202877	1.00[MEX][hapmap]
rs72787110	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
5	nsv833283	chr16:75302175-75392308	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2762265	chr16:75368897-75415866	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17764278	MIR142	trans	lymphoblastoid	seeQTL
rs17764278	CFDP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75338800-75426400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:75339400-75411800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr16:75340400-75374800	Weak transcription	Aorta	Aorta
4	chr16:75342200-75381200	Weak transcription	Esophagus	oesophagus
5	chr16:75344000-75376400	Weak transcription	Gastric	stomach
6	chr16:75348400-75374200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr16:75352200-75376400	Weak transcription	Pancreas	Pancrea
8	chr16:75352200-75396000	Weak transcription	Lung	lung
9	chr16:75354600-75375000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr16:75354800-75374800	Weak transcription	Liver	Liver
11	chr16:75354800-75413600	Weak transcription	Fetal Thymus	thymus
12	chr16:75355000-75374600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:75355400-75375000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:75355400-75379800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr16:75357400-75374400	Weak transcription	Osteobl	bone
16	chr16:75357400-75374800	Weak transcription	NHDF-Ad	bronchial
17	chr16:75358000-75374800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr16:75358200-75374400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:75358200-75374800	Weak transcription	NHLF	lung
20	chr16:75358400-75374600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr16:75358400-75374600	Weak transcription	NH-A	brain
22	chr16:75358400-75374600	Weak transcription	NHEK	skin
23	chr16:75358400-75374800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr16:75358400-75374800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr16:75358400-75421400	Weak transcription	K562	blood
26	chr16:75359400-75374800	Weak transcription	Psoas Muscle	Psoas
27	chr16:75359400-75376400	Weak transcription	Ovary	ovary
28	chr16:75359600-75374400	Weak transcription	HMEC	breast
29	chr16:75360800-75374400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr16:75363600-75374600	Weak transcription	HSMM	muscle
31	chr16:75364000-75376400	Weak transcription	Right Ventricle	heart
32	chr16:75364400-75375200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr16:75364800-75375800	Weak transcription	Stomach Mucosa	stomach
34	chr16:75365200-75392400	Weak transcription	Brain Angular Gyrus	brain
35	chr16:75365600-75376200	Weak transcription	HepG2	liver
36	chr16:75366000-75374600	Weak transcription	Fetal Brain Female	brain
37	chr16:75368000-75374400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr16:75368000-75375400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr16:75368400-75374800	Weak transcription	Fetal Muscle Leg	muscle
40	chr16:75368400-75375000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr16:75368600-75376400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr16:75368600-75376800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr16:75368600-75379600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr16:75368600-75396600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr16:75368600-75411400	Weak transcription	GM12878-XiMat	blood
46	chr16:75368600-75412800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr16:75368800-75409800	Weak transcription	Thymus	Thymus
48	chr16:75368800-75413200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr16:75369200-75406000	Weak transcription	Dnd41	blood
50	chr16:75369400-75374400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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