Variant report

Variant	rs7157977
Chromosome Location	chr14:31858209-31858210
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IKZF1	chr14:31858037-31858452	GM12878	blood:	n/a	n/a
2	BATF	chr14:31857940-31858574	GM12878	blood:	n/a	chr14:31858232-31858243
3	NFIC	chr14:31857936-31858716	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:31858202-31858252	HL-60	blood:	n/a
2	chr14:31858202-31858252	NH-A	brain:	n/a
3	chr14:31858202-31858252	AoSMC	blood vessel:	n/a
4	chr14:31858202-31858252	BJ	skin:	n/a
5	chr14:31858202-31858252	HCPEpiC	choroid plexus:	n/a
6	chr14:31858202-31858252	H1-hESC	embryonic stem cell:	embryo
7	chr14:31858202-31858252	ECC-1	luminal epithelium:	n/a
8	chr14:31858202-31858252	HRCEpiC	kidney:	n/a
9	chr14:31858202-31858252	HIPEpiC	eye:	n/a
10	chr14:31858202-31858252	HepG2	liver:	n/a
11	chr14:31858202-31858252	NT2-D1	testis:	n/a
12	chr14:31858202-31858252	Hela-S3	cervix:	n/a
13	chr14:31858202-31858252	HMEC	breast:	n/a
14	chr14:31858202-31858252	HNPCEpiC	eye:	n/a
15	chr14:31858202-31858252	MCF-7	breast:	n/a
16	chr14:31858202-31858252	AG04450	lung:	fetal
17	chr14:31858202-31858252	RPTEC	kidney:	n/a
18	chr14:31858202-31858252	GM12892	blood:	n/a
19	chr14:31858202-31858252	HCM	heart:	n/a
20	chr14:31858202-31858252	GM12878	blood:	n/a
21	chr14:31858202-31858252	AG10803	skin:	n/a
22	chr14:31858202-31858252	LNCaP	prostate:	n/a
23	chr14:31858202-31858252	K562	blood:	n/a
24	chr14:31858202-31858252	HPAEpiC	pulmonary alveolar:	n/a
25	chr14:31858202-31858252	SK-N-MC	brain:	n/a
26	chr14:31858202-31858252	GM06990	blood:	n/a
27	chr14:31858202-31858252	NHDF-neo	bronchial:	n/a
28	chr14:31858202-31858252	HEEpiC	esophagus:	n/a
29	chr14:31858202-31858252	SK-N-SH_RA	brain:	n/a
30	chr14:31858202-31858252	AG09319	gingival:	n/a
31	chr14:31858202-31858252	U87	brain:	n/a
32	chr14:31858202-31858252	HRE	kidney:	n/a
33	chr14:31858202-31858252	IMR90	lung:	fetal
34	chr14:31858202-31858252	HRPEpiC	eye:	n/a
35	chr14:31858202-31858252	SAEC	small airway:	n/a
36	chr14:31858202-31858252	CMK	blood:	n/a
37	chr14:31858202-31858252	SKMC	muscle:	n/a
38	chr14:31858202-31858252	HCT-116	colon:	n/a
39	chr14:31858202-31858252	ovcar-3	ovarian:	n/a
40	chr14:31858202-31858252	HEK293	kidney:	embryo
41	chr14:31858202-31858252	GM12891	blood:	n/a
42	chr14:31858202-31858252	AG04449	skin:	fetal
43	chr14:31858202-31858252	ProgFib	skin:	n/a
44	chr14:31858202-31858252	HUVEC	blood vessel:	n/a
45	chr14:31858202-31858252	BE2_C	brain:	n/a
46	chr14:31858202-31858252	T-47D	breast:	n/a
47	chr14:31858202-31858252	PrEC	prostate:	n/a
48	chr14:31858202-31858252	HCF	heart:	n/a
49	chr14:31858202-31858252	GM19239	blood:	n/a
50	chr14:31858202-31858252	NHBE	bronchial:	n/a

No data

Variant related genes	Relation type
HEATR5A	TF binding region
HEATR5A	CpG island

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10872851	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes]
rs11156666	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11156667	0.82[CEU][hapmap]
rs11156670	0.92[ASN][1000 genomes]
rs11624447	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11625148	0.84[EUR][1000 genomes]
rs11627106	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11627355	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12147258	0.86[AMR][1000 genomes]
rs12588420	0.96[CEU][hapmap];0.80[GIH][hapmap];0.98[TSI][hapmap];0.99[EUR][1000 genomes]
rs12886573	0.81[CHB][hapmap]
rs12893465	0.81[ASW][hapmap];0.81[CEU][hapmap];0.88[GIH][hapmap];0.87[LWK][hapmap];0.81[MKK][hapmap];0.84[TSI][hapmap];0.88[YRI][hapmap];0.85[EUR][1000 genomes]
rs17097870	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1888576	0.81[CEU][hapmap];0.88[GIH][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes]
rs2378865	0.88[CEU][hapmap];0.95[EUR][1000 genomes]
rs34709766	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35904795	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs45490191	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4981092	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4981835	0.81[AMR][1000 genomes]
rs4981842	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56314035	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6571416	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144879	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7149240	1.00[CEU][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7150262	0.92[CEU][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes]
rs7152230	1.00[CEU][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7159731	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7161558	0.81[GIH][hapmap];0.82[MEX][hapmap]
rs8017888	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7157977	RP11-176H8.1	cis	Muscle Skeletal	GTEx
rs7157977	HEATR5A	cis	cerebellum	SCAN
rs7157977	C14orf126	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:31782200-31875200	Weak transcription	Gastric	stomach
3	chr14:31799800-31866800	Weak transcription	Esophagus	oesophagus
4	chr14:31801200-31883800	Weak transcription	Small Intestine	intestine
5	chr14:31801400-31862800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:31801400-31875600	Weak transcription	Brain Germinal Matrix	brain
7	chr14:31801600-31872400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:31801800-31862600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:31802800-31872000	Weak transcription	Fetal Brain Male	brain
10	chr14:31803600-31872600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:31808000-31872600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:31809600-31872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:31813200-31872800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:31816000-31888800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:31825600-31872800	Weak transcription	Fetal Kidney	kidney
16	chr14:31825600-31878600	Weak transcription	Pancreas	Pancrea
17	chr14:31825800-31860200	Weak transcription	Psoas Muscle	Psoas
18	chr14:31827400-31874400	Weak transcription	Spleen	Spleen
19	chr14:31828000-31866800	Weak transcription	Colonic Mucosa	Colon
20	chr14:31830600-31862000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:31837000-31858400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:31837200-31871800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:31838000-31875000	Weak transcription	K562	blood
24	chr14:31839000-31862400	Weak transcription	Ovary	ovary
25	chr14:31841400-31864800	Weak transcription	NHEK	skin
26	chr14:31841400-31872800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr14:31841600-31872200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr14:31844000-31862600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr14:31844200-31865200	Weak transcription	Right Ventricle	heart
30	chr14:31845200-31861600	Weak transcription	HMEC	breast
31	chr14:31847000-31878600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr14:31847600-31875000	Weak transcription	Stomach Mucosa	stomach
33	chr14:31847800-31860800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:31847800-31865200	Weak transcription	NHLF	lung
35	chr14:31847800-31887400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:31848400-31858400	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr14:31848800-31862400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:31849400-31865400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr14:31851000-31862600	Weak transcription	Aorta	Aorta
40	chr14:31851000-31872600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr14:31851200-31861200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:31851200-31870400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:31851200-31872400	Strong transcription	HepG2	liver
44	chr14:31851400-31862600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr14:31851600-31872800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr14:31852400-31867400	Weak transcription	HUVEC	blood vessel
47	chr14:31853000-31858800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr14:31853000-31862000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:31853000-31862600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr14:31853000-31866800	Weak transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links