Variant report

Variant	rs16916672
Chromosome Location	chr8:95278160-95278161
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:95278142-95278192	SK-N-SH	brain:	n/a
2	chr8:95278142-95278192	NB4	blood:	n/a
3	chr8:95278142-95278192	AoSMC	blood vessel:	n/a
4	chr8:95278142-95278192	CMK	blood:	n/a
5	chr8:95278142-95278192	GM12891	blood:	n/a
6	chr8:95278142-95278192	ovcar-3	ovarian:	n/a
7	chr8:95278142-95278192	K562	blood:	n/a
8	chr8:95278142-95278192	HCPEpiC	choroid plexus:	n/a
9	chr8:95278142-95278192	HL-60	blood:	n/a
10	chr8:95278142-95278192	HRE	kidney:	n/a
11	chr8:95278142-95278192	BE2_C	brain:	n/a
12	chr8:95278142-95278192	AG04449	skin:	fetal
13	chr8:95278142-95278192	NHDF-neo	bronchial:	n/a
14	chr8:95278142-95278192	ProgFib	skin:	n/a
15	chr8:95278142-95278192	BJ	skin:	n/a
16	chr8:95278142-95278192	SK-N-MC	brain:	n/a
17	chr8:95278142-95278192	U87	brain:	n/a
18	chr8:95278142-95278192	GM19239	blood:	n/a
19	chr8:95278142-95278192	HNPCEpiC	eye:	n/a
20	chr8:95278142-95278192	HUVEC	blood vessel:	n/a
21	chr8:95278142-95278192	HEEpiC	esophagus:	n/a
22	chr8:95278142-95278192	HRPEpiC	eye:	n/a
23	chr8:95278142-95278192	A549	lung:	n/a
24	chr8:95278142-95278192	NT2-D1	testis:	n/a
25	chr8:95278142-95278192	HPAEpiC	pulmonary alveolar:	n/a
26	chr8:95278142-95278192	HCM	heart:	n/a
27	chr8:95278142-95278192	H1-hESC	embryonic stem cell:	embryo
28	chr8:95278142-95278192	HMEC	breast:	n/a
29	chr8:95278142-95278192	LNCaP	prostate:	n/a
30	chr8:95278142-95278192	GM12892	blood:	n/a
31	chr8:95278142-95278192	RPTEC	kidney:	n/a
32	chr8:95278142-95278192	MCF10A-Er-Src	breast:	n/a
33	chr8:95278142-95278192	HepG2	liver:	n/a
34	chr8:95278142-95278192	T-47D	breast:	n/a
35	chr8:95278142-95278192	Hela-S3	cervix:	n/a
36	chr8:95278142-95278192	AG09309	skin:	n/a
37	chr8:95278142-95278192	HCT-116	colon:	n/a
38	chr8:95278142-95278192	HCF	heart:	n/a
39	chr8:95278142-95278192	Jurkat	blood:	n/a
40	chr8:95278142-95278192	SAEC	small airway:	n/a
41	chr8:95278142-95278192	SKMC	muscle:	n/a
42	chr8:95278142-95278192	HIPEpiC	eye:	n/a
43	chr8:95278142-95278192	HEK293	kidney:	embryo
44	chr8:95278142-95278192	NHBE	bronchial:	n/a
45	chr8:95278142-95278192	PFSK-1	brain:	n/a
46	chr8:95278142-95278192	MCF-7	breast:	n/a
47	chr8:95278142-95278192	AG10803	skin:	n/a
48	chr8:95278142-95278192	ECC-1	luminal epithelium:	n/a
49	chr8:95278142-95278192	SK-N-SH_RA	brain:	n/a
50	chr8:95278142-95278192	GM12878	blood:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95274119..95275817-chr8:95277862..95279971,2	K562	blood:
2	chr8:95273813..95275817-chr8:95277078..95279971,2	K562	blood:

No data

Variant related genes	Relation type
GEM	CpG island
ENSG00000164949	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12386916	0.94[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17734778	0.88[AMR][1000 genomes]
rs1872888	1.00[CEU][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4734273	0.83[ASW][hapmap];0.94[YRI][hapmap]
rs4734274	0.82[YRI][hapmap]
rs4735278	0.94[YRI][hapmap]
rs4735279	0.94[YRI][hapmap]
rs4735281	0.94[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024907	chr8:95188944-95296378	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv539677	chr8:95188944-95296378	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1024893	chr8:95189085-95293557	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1035036	chr8:95213244-95283014	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1022382	chr8:95261955-95283587	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1023617	chr8:95261955-95284414	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
9	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95275000-95278600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:95275000-95284000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:95275200-95278600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:95275200-95278600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:95275200-95284200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:95275200-95284200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:95275400-95278200	Weak transcription	Placenta	Placenta
8	chr8:95275400-95278400	Weak transcription	NHEK	skin
9	chr8:95275400-95278600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:95275400-95278800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:95275400-95284000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:95275400-95284200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:95275400-95284600	Weak transcription	Pancreas	Pancrea
14	chr8:95275600-95278200	Weak transcription	NHDF-Ad	bronchial
15	chr8:95275600-95278400	Weak transcription	Fetal Lung	lung
16	chr8:95275600-95278400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:95275600-95278400	Weak transcription	Stomach Mucosa	stomach
18	chr8:95275600-95278600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:95275600-95279400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr8:95275600-95284000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:95275800-95278400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:95275800-95279000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:95275800-95279000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:95276000-95278400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:95276000-95284600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:95276000-95286600	Weak transcription	Right Atrium	heart
27	chr8:95276200-95278400	Weak transcription	HMEC	breast
28	chr8:95276200-95278600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:95276200-95278600	Weak transcription	Fetal Heart	heart
30	chr8:95276200-95278600	Weak transcription	A549	lung
31	chr8:95276400-95278600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:95276400-95278600	Weak transcription	Fetal Stomach	stomach
33	chr8:95276800-95279200	Enhancers	Fetal Intestine Small	intestine
34	chr8:95277000-95279200	Enhancers	Fetal Intestine Large	intestine
35	chr8:95277400-95278200	Enhancers	Duodenum Mucosa	Duodenum
36	chr8:95278000-95278400	Weak transcription	Small Intestine	intestine
37	chr8:95278000-95278600	Weak transcription	Aorta	Aorta

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