Variant report

Variant	rs34848966
Chromosome Location	chr8:9416781-9416782
allele	C/T
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:3)
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	chr8:9416736-9416786	ECC-1	luminal epithelium:	n/a
2	chr8:9416736-9416786	K562	blood:	n/a
3	chr8:9416736-9416786	NB4	blood:	n/a
4	chr8:9416736-9416786	HAEpiC	amniotic membrane:	n/a
5	chr8:9416736-9416786	BJ	skin:	n/a
6	chr8:9416736-9416786	NHBE	bronchial:	n/a
7	chr8:9416736-9416786	HCF	heart:	n/a
8	chr8:9416736-9416786	Jurkat	blood:	n/a
9	chr8:9416736-9416786	NT2-D1	testis:	n/a
10	chr8:9416736-9416786	SK-N-SH_RA	brain:	n/a
11	chr8:9416736-9416786	Hela-S3	cervix:	n/a
12	chr8:9416736-9416786	HRCEpiC	kidney:	n/a
13	chr8:9416736-9416786	GM12891	blood:	n/a
14	chr8:9416736-9416786	AG09309	skin:	n/a
15	chr8:9416736-9416786	PrEC	prostate:	n/a
16	chr8:9416736-9416786	U87	brain:	n/a
17	chr8:9416736-9416786	H1-hESC	embryonic stem cell:	embryo
18	chr8:9416736-9416786	NH-A	brain:	n/a
19	chr8:9416736-9416786	HepG2	liver:	n/a
20	chr8:9416736-9416786	AG04450	lung:	fetal
21	chr8:9416736-9416786	AG04449	skin:	fetal
22	chr8:9416736-9416786	AoSMC	blood vessel:	n/a
23	chr8:9416736-9416786	HRE	kidney:	n/a
24	chr8:9416736-9416786	A549	lung:	n/a
25	chr8:9416736-9416786	HL-60	blood:	n/a
26	chr8:9416736-9416786	NHDF-neo	bronchial:	n/a
27	chr8:9416736-9416786	HPAEpiC	pulmonary alveolar:	n/a
28	chr8:9416736-9416786	AG09319	gingival:	n/a
29	chr8:9416736-9416786	SK-N-MC	brain:	n/a
30	chr8:9416736-9416786	SAEC	small airway:	n/a
31	chr8:9416736-9416786	LNCaP	prostate:	n/a
32	chr8:9416736-9416786	HEK293	kidney:	embryo
33	chr8:9416736-9416786	SKMC	muscle:	n/a
34	chr8:9416736-9416786	HCPEpiC	choroid plexus:	n/a
35	chr8:9416736-9416786	RPTEC	kidney:	n/a
36	chr8:9416736-9416786	GM06990	blood:	n/a
37	chr8:9416736-9416786	PANC-1	pancreas:	n/a
38	chr8:9416736-9416786	GM12892	blood:	n/a
39	chr8:9416736-9416786	CMK	blood:	n/a
40	chr8:9416736-9416786	HUVEC	blood vessel:	n/a
41	chr8:9416736-9416786	AG10803	skin:	n/a
42	chr8:9416736-9416786	PFSK-1	brain:	n/a
43	chr8:9416736-9416786	SK-N-SH	brain:	n/a
44	chr8:9416736-9416786	T-47D	breast:	n/a
45	chr8:9416736-9416786	HMEC	breast:	n/a
46	chr8:9416736-9416786	GM19239	blood:	n/a
47	chr8:9416736-9416786	HCT-116	colon:	n/a
48	chr8:9416736-9416786	ovcar-3	ovarian:	n/a
49	chr8:9416736-9416786	HCM	heart:	n/a
50	chr8:9416736-9416786	HEEpiC	esophagus:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:9413509..9415048-chr8:9415515..9417474,2	MCF-7	breast:
2	chr8:9413652..9415403-chr8:9416185..9419439,4	MCF-7	breast:
3	chr8:9413105..9415000-chr8:9415531..9419993,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272267	CpG island
ENSG00000173273	Chromatin interaction
ENSG00000272267	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10090598	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10109688	0.86[EUR][1000 genomes]
rs11774818	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11775432	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11776199	0.85[EUR][1000 genomes]
rs11777891	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11780046	0.91[AMR][1000 genomes]
rs11780274	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11780757	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11781665	0.81[AMR][1000 genomes]
rs11784858	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11785485	0.96[AMR][1000 genomes]
rs11991547	0.86[EUR][1000 genomes]
rs11994018	0.89[EUR][1000 genomes]
rs12547639	0.88[EUR][1000 genomes]
rs13249570	0.85[EUR][1000 genomes]
rs13250838	0.85[EUR][1000 genomes]
rs13256939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13258733	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13261385	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13261395	0.90[AMR][1000 genomes]
rs13261660	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13263825	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13264510	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13265363	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13267100	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13268770	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13270240	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13273330	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13273771	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13274310	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13275867	0.89[EUR][1000 genomes]
rs13276464	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13277588	0.85[EUR][1000 genomes]
rs13280515	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13282049	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1393	0.88[EUR][1000 genomes]
rs17150201	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17150206	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28696132	0.97[EUR][1000 genomes]
rs34095920	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34173677	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34182142	0.85[EUR][1000 genomes]
rs34319155	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34374861	0.96[AMR][1000 genomes]
rs34393110	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34413242	0.83[EUR][1000 genomes]
rs34622193	0.95[AMR][1000 genomes]
rs34638238	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34679455	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34926681	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34973657	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35017872	0.94[EUR][1000 genomes]
rs35054885	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35075657	0.95[AMR][1000 genomes]
rs35197051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35200157	0.88[AMR][1000 genomes]
rs35361105	0.96[EUR][1000 genomes]
rs35565635	0.86[AMR][1000 genomes]
rs35617039	0.91[AMR][1000 genomes]
rs35700558	0.83[EUR][1000 genomes]
rs35722901	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35812948	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35890521	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36090374	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4128324	0.89[EUR][1000 genomes]
rs4263773	0.82[EUR][1000 genomes]
rs4282576	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4376499	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4458881	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4493906	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4535743	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4551359	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4840423	0.95[AMR][1000 genomes]
rs4840424	0.93[AMR][1000 genomes]
rs4840432	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4841171	0.85[AMR][1000 genomes]
rs4841172	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4841186	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4841194	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62493904	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62493905	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6601328	0.90[AMR][1000 genomes]
rs7013834	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71516518	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71516523	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7463594	0.85[EUR][1000 genomes]
rs7824880	0.88[EUR][1000 genomes]
rs7839648	0.88[EUR][1000 genomes]
rs9650636	0.88[EUR][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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1033031	chr8:9310266-9418941	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9412200-9416800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:9412600-9417000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:9414000-9416800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:9414200-9417200	Flanking Active TSS	Dnd41	blood
5	chr8:9414400-9416800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:9414400-9420600	Weak transcription	Esophagus	oesophagus
7	chr8:9414400-9459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:9414600-9416800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:9414600-9416800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:9414600-9417600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:9414600-9417600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr8:9414800-9416800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr8:9414800-9417000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:9414800-9417200	Enhancers	Primary T cells from cord blood	blood
15	chr8:9414800-9417200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr8:9414800-9417200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr8:9414800-9417200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr8:9414800-9417200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr8:9414800-9417400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:9414800-9417600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr8:9414800-9418000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr8:9414800-9418800	Weak transcription	Ovary	ovary
23	chr8:9414800-9419200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:9414800-9427800	Weak transcription	Right Ventricle	heart
25	chr8:9415000-9416800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr8:9415000-9416800	Enhancers	Hela-S3	cervix
27	chr8:9415000-9417200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:9415000-9417200	Enhancers	Adipose Nuclei	Adipose
29	chr8:9415000-9417400	Enhancers	A549	lung
30	chr8:9415000-9435400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:9415200-9416800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:9415200-9417000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:9415600-9416800	Enhancers	HMEC	breast
34	chr8:9415600-9416800	Enhancers	HUVEC	blood vessel
35	chr8:9415600-9417000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr8:9415600-9417200	Enhancers	Liver	Liver
37	chr8:9415800-9416800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr8:9415800-9416800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:9415800-9417000	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr8:9415800-9417200	Enhancers	HSMM	muscle
41	chr8:9415800-9419200	Active TSS	GM12878-XiMat	blood
42	chr8:9415800-9421600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:9415800-9434800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:9416000-9416800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:9416000-9416800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:9416000-9416800	Weak transcription	Psoas Muscle	Psoas
47	chr8:9416000-9417000	Enhancers	Osteobl	bone
48	chr8:9416000-9417200	Enhancers	Brain Angular Gyrus	brain
49	chr8:9416000-9432400	Weak transcription	Primary B cells from cord blood	blood
50	chr8:9416000-9434600	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links