Variant report

Variant	rs11693335
Chromosome Location	chr2:20370413-20370414
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:5)
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	chr2:20370392-20370442	AG04449	skin:	fetal
2	chr2:20370392-20370442	GM12891	blood:	n/a
3	chr2:20370392-20370442	HRCEpiC	kidney:	n/a
4	chr2:20370392-20370442	MCF-7	breast:	n/a
5	chr2:20370392-20370442	NH-A	brain:	n/a
6	chr2:20370392-20370442	U87	brain:	n/a
7	chr2:20370392-20370442	PANC-1	pancreas:	n/a
8	chr2:20370392-20370442	AG09309	skin:	n/a
9	chr2:20370392-20370442	CMK	blood:	n/a
10	chr2:20370392-20370442	Hepatocyte	liver:	n/a
11	chr2:20370392-20370442	AG10803	skin:	n/a
12	chr2:20370392-20370442	GM12878	blood:	n/a
13	chr2:20370392-20370442	T-47D	breast:	n/a
14	chr2:20370392-20370442	BE2_C	brain:	n/a
15	chr2:20370392-20370442	NHBE	bronchial:	n/a
16	chr2:20370392-20370442	HUVEC	blood vessel:	n/a
17	chr2:20370392-20370442	HPAEpiC	pulmonary alveolar:	n/a
18	chr2:20370392-20370442	H1-hESC	embryonic stem cell:	embryo
19	chr2:20370392-20370442	HepG2	liver:	n/a
20	chr2:20370392-20370442	HL-60	blood:	n/a
21	chr2:20370392-20370442	SAEC	small airway:	n/a
22	chr2:20370392-20370442	A549	lung:	n/a
23	chr2:20370392-20370442	Jurkat	blood:	n/a
24	chr2:20370392-20370442	HEK293	kidney:	embryo
25	chr2:20370392-20370442	SKMC	muscle:	n/a
26	chr2:20370392-20370442	ovcar-3	ovarian:	n/a
27	chr2:20370392-20370442	GM06990	blood:	n/a
28	chr2:20370392-20370442	NHDF-neo	bronchial:	n/a
29	chr2:20370392-20370442	HMEC	breast:	n/a
30	chr2:20370392-20370442	NT2-D1	testis:	n/a
31	chr2:20370392-20370442	ECC-1	luminal epithelium:	n/a
32	chr2:20370392-20370442	HRE	kidney:	n/a
33	chr2:20370392-20370442	HAEpiC	amniotic membrane:	n/a
34	chr2:20370392-20370442	AoSMC	blood vessel:	n/a
35	chr2:20370392-20370442	NB4	blood:	n/a
36	chr2:20370392-20370442	HNPCEpiC	eye:	n/a
37	chr2:20370392-20370442	HCT-116	colon:	n/a
38	chr2:20370392-20370442	IMR90	lung:	fetal
39	chr2:20370392-20370442	AG04450	lung:	fetal
40	chr2:20370392-20370442	Caco-2	colon:	n/a
41	chr2:20370392-20370442	MCF10A-Er-Src	breast:	n/a
42	chr2:20370392-20370442	HCF	heart:	n/a
43	chr2:20370392-20370442	LNCaP	prostate:	n/a
44	chr2:20370392-20370442	SK-N-SH_RA	brain:	n/a
45	chr2:20370392-20370442	Hela-S3	cervix:	n/a
46	chr2:20370392-20370442	GM12892	blood:	n/a
47	chr2:20370392-20370442	HIPEpiC	eye:	n/a
48	chr2:20370392-20370442	AG09319	gingival:	n/a
49	chr2:20370392-20370442	K562	blood:	n/a
50	chr2:20370392-20370442	HCM	heart:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20101674..20103205-chr2:20369213..20371363,2	MCF-7	breast:
2	chr2:20369269..20371931-chr2:20376136..20379582,4	MCF-7	breast:
3	chr2:20368402..20370917-chr2:20372413..20374946,2	K562	blood:
4	chr2:20368602..20370551-chr2:20379312..20381264,2	MCF-7	breast:
5	chr2:20347344..20349010-chr2:20367659..20370421,2	MCF-7	breast:

No data

Variant related genes	Relation type
RN7SL140P	CpG island
ENSG00000183891	Chromatin interaction
ENSG00000271991	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1107850	0.88[CEU][hapmap];0.83[CHB][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1107851	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1107852	0.86[CHB][hapmap]
rs11096641	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11895352	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11899121	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478327	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13009332	0.90[CHB][hapmap];0.88[ASN][1000 genomes]
rs13010903	0.90[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs1473886	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2090032	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2090034	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35135293	0.88[ASN][1000 genomes]
rs6531216	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6728072	0.90[CHB][hapmap];0.88[ASN][1000 genomes]
rs7577335	0.90[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs870526	0.81[CEU][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs870527	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs907866	0.96[CEU][hapmap];0.95[CHB][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs907867	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs907868	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009521	chr2:20310479-20388959	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1012841	chr2:20328894-20415168	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1004083	chr2:20336237-20388138	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1000323	chr2:20336237-20419923	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1004947	chr2:20342264-20388138	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv997958	chr2:20349343-20386339	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1005524	chr2:20349343-20388138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv999131	chr2:20350751-20377607	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv998067	chr2:20350751-20386339	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1001531	chr2:20350751-20388138	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv1007926	chr2:20350751-20393557	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20362400-20371400	Weak transcription	Right Atrium	heart
2	chr2:20363800-20374000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:20364400-20372000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:20364800-20372200	Enhancers	NHEK	skin
5	chr2:20366000-20370800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:20366000-20371200	Weak transcription	Fetal Lung	lung
7	chr2:20366400-20372000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:20366600-20371600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:20366800-20372600	Enhancers	Placenta	Placenta
10	chr2:20367200-20376600	Weak transcription	Stomach Mucosa	stomach
11	chr2:20367400-20372200	Weak transcription	GM12878-XiMat	blood
12	chr2:20367600-20371200	Weak transcription	Pancreas	Pancrea
13	chr2:20367600-20371200	Weak transcription	HMEC	breast
14	chr2:20367800-20383600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:20368000-20370600	Enhancers	Brain Germinal Matrix	brain
16	chr2:20368600-20370600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:20369000-20374400	Enhancers	Esophagus	oesophagus
18	chr2:20369200-20370800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:20369400-20370800	Enhancers	Spleen	Spleen
20	chr2:20369600-20371400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:20369600-20371800	Enhancers	Fetal Intestine Large	intestine
22	chr2:20369600-20377800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:20369800-20370600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:20369800-20370600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:20369800-20370800	Enhancers	HUVEC	blood vessel
26	chr2:20369800-20371000	Enhancers	Lung	lung
27	chr2:20369800-20371800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:20369800-20371800	Enhancers	Fetal Intestine Small	intestine
29	chr2:20369800-20374200	Enhancers	Liver	Liver
30	chr2:20370000-20370800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:20370000-20370800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:20370000-20371200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:20370000-20373200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:20370200-20371200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:20370200-20371400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr2:20370200-20371400	Enhancers	HepG2	liver
37	chr2:20370200-20372000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:20370200-20372000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:20370200-20379800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:20370400-20370600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr2:20370400-20372200	Enhancers	Fetal Kidney	kidney

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