Variant report

Variant	rs11758326
Chromosome Location	chr6:34482498-34482499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr6:34482385-34482723	K562	blood:	n/a	chr6:34482547-34482556
2	SIN3AK20	chr6:34482318-34482689	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3A	chr6:34482170-34483111	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr6:34482340-34482583	K562	blood:	n/a	n/a
5	CTCF	chr6:34482480-34482630	HBMEC	blood vessel:	n/a	n/a
6	CTCF	chr6:34482340-34482641	K562	blood:	n/a	n/a
7	ZNF143	chr6:34482123-34482872	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZNF384	chr6:34482464-34482503	K562	blood:	n/a	n/a
9	EGR1	chr6:34482440-34482686	K562	blood:	n/a	n/a
10	CTCF	chr6:34482339-34482618	K562	blood:	n/a	n/a
11	RAD21	chr6:34482405-34482655	SK-N-SH_RA	brain:	n/a	n/a
12	HCFC1	chr6:34482425-34482602	K562	blood:	n/a	n/a
13	MAX	chr6:34482399-34482611	K562	blood:	n/a	chr6:34482547-34482556
14	CTCF	chr6:34482420-34482570	HRE	kidney:	n/a	n/a
15	TAF1	chr6:34482293-34482980	H1-neurons	neurons:	n/a	n/a
16	RAD21	chr6:34482375-34482711	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr6:34482460-34482610	AG04449	skin:	n/a	n/a
18	CTCF	chr6:34482380-34482530	AG09319	gingival:	n/a	n/a
19	CTCF	chr6:34482400-34482550	RPTEC	kidney:	n/a	n/a
20	RAD21	chr6:34482407-34482593	K562	blood:	n/a	n/a
21	POLR2A	chr6:34482242-34482938	H1-neurons	neurons:	n/a	n/a
22	CTCF	chr6:34482420-34482570	HPF	lung:	n/a	n/a
23	CTCF	chr6:34482440-34482590	HPF	lung:	n/a	n/a
24	CTCF	chr6:34482480-34482630	HPAF	blood vessel:	n/a	n/a
25	CTCF	chr6:34482380-34482530	HRPEpiC	eye:	n/a	n/a
26	MXI1	chr6:34482412-34482595	K562	blood:	n/a	chr6:34482545-34482560 chr6:34482547-34482562
27	RAD21	chr6:34482335-34482644	K562	blood:	n/a	n/a
28	CTCF	chr6:34482400-34482550	K562	blood:	n/a	n/a
29	CTCF	chr6:34482460-34482610	HFF	foreskin:	n/a	n/a
30	MAX	chr6:34482310-34482713	K562	blood:	n/a	chr6:34482547-34482556
31	MAX	chr6:34482360-34482568	K562	blood:	n/a	chr6:34482547-34482556
32	CTCF	chr6:34482440-34482590	WERI-Rb-1	eye:	n/a	n/a
33	CTCF	chr6:34482400-34482550	HRE	kidney:	n/a	n/a
34	MXI1	chr6:34482339-34482569	H1-hESC	embryonic stem cell:	n/a	chr6:34482545-34482560 chr6:34482547-34482562
35	ZNF143	chr6:34482473-34482569	K562	blood:	n/a	n/a
36	EGR1	chr6:34482391-34482734	K562	blood:	n/a	n/a
37	HMGN3	chr6:34482411-34482779	K562	blood:	n/a	n/a
38	CTCF	chr6:34482420-34482570	WERI-Rb-1	eye:	n/a	n/a
39	REST	chr6:34481947-34483279	H1-neurons	neurons:	n/a	chr6:34483142-34483155
40	CTBP2	chr6:34482182-34482985	H1-hESC	embryonic stem cell:	n/a	n/a
41	RCOR1	chr6:34482410-34482606	K562	blood:	n/a	n/a
42	MAZ	chr6:34482302-34482964	IMR90	lung:	n/a	chr6:34482547-34482556
43	CTCF	chr6:34482326-34482672	K562	blood:	n/a	n/a
44	CCNT2	chr6:34482363-34482613	K562	blood:	n/a	n/a
45	CTCF	chr6:34482391-34482618	K562	blood:	n/a	n/a
46	CTCF	chr6:34482432-34482524	H1-hESC	embryonic stem cell:	n/a	n/a
47	BHLHE40	chr6:34481627-34482576	K562	blood:	n/a	n/a
48	CTCF	chr6:34482440-34482590	HPAF	blood vessel:	n/a	n/a
49	SMC3	chr6:34482330-34482634	K562	blood:	n/a	n/a
50	POLR2A	chr6:34482306-34482956	H1-neurons	neurons:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:34482479-34482529	HAEpiC	amniotic membrane:	n/a
2	chr6:34482479-34482529	HIPEpiC	eye:	n/a
3	chr6:34482479-34482529	HL-60	blood:	n/a
4	chr6:34482479-34482529	HPAEpiC	pulmonary alveolar:	n/a
5	chr6:34482479-34482529	HEEpiC	esophagus:	n/a
6	chr6:34482479-34482529	HEK293	kidney:	embryo
7	chr6:34482479-34482529	ovcar-3	ovarian:	n/a
8	chr6:34482479-34482529	AG10803	skin:	n/a
9	chr6:34482479-34482529	SK-N-SH	brain:	n/a
10	chr6:34482479-34482529	ECC-1	luminal epithelium:	n/a
11	chr6:34482479-34482529	SAEC	small airway:	n/a
12	chr6:34482479-34482529	Jurkat	blood:	n/a
13	chr6:34482479-34482529	Caco-2	colon:	n/a
14	chr6:34482479-34482529	HNPCEpiC	eye:	n/a
15	chr6:34482479-34482529	HCT-116	colon:	n/a
16	chr6:34482479-34482529	U87	brain:	n/a
17	chr6:34482479-34482529	K562	blood:	n/a
18	chr6:34482479-34482529	IMR90	lung:	fetal
19	chr6:34482479-34482529	GM12878	blood:	n/a
20	chr6:34482479-34482529	Hepatocyte	liver:	n/a
21	chr6:34482479-34482529	HMEC	breast:	n/a
22	chr6:34482479-34482529	HRE	kidney:	n/a
23	chr6:34482479-34482529	AG09319	gingival:	n/a
24	chr6:34482479-34482529	H1-hESC	embryonic stem cell:	embryo
25	chr6:34482479-34482529	LNCaP	prostate:	n/a
26	chr6:34482479-34482529	HCF	heart:	n/a
27	chr6:34482479-34482529	NHDF-neo	bronchial:	n/a
28	chr6:34482479-34482529	PANC-1	pancreas:	n/a
29	chr6:34482479-34482529	GM12891	blood:	n/a
30	chr6:34482479-34482529	BE2_C	brain:	n/a
31	chr6:34482479-34482529	SK-N-SH_RA	brain:	n/a
32	chr6:34482479-34482529	NHBE	bronchial:	n/a
33	chr6:34482479-34482529	GM06990	blood:	n/a
34	chr6:34482479-34482529	PrEC	prostate:	n/a
35	chr6:34482479-34482529	MCF10A-Er-Src	breast:	n/a
36	chr6:34482479-34482529	AG04450	lung:	fetal
37	chr6:34482479-34482529	SK-N-MC	brain:	n/a
38	chr6:34482479-34482529	HepG2	liver:	n/a
39	chr6:34482479-34482529	SKMC	muscle:	n/a
40	chr6:34482479-34482529	AG09309	skin:	n/a
41	chr6:34482479-34482529	GM19239	blood:	n/a
42	chr6:34482479-34482529	AoSMC	blood vessel:	n/a
43	chr6:34482479-34482529	HCPEpiC	choroid plexus:	n/a
44	chr6:34482479-34482529	RPTEC	kidney:	n/a
45	chr6:34482479-34482529	HUVEC	blood vessel:	n/a
46	chr6:34482479-34482529	GM12892	blood:	n/a
47	chr6:34482479-34482529	Hela-S3	cervix:	n/a
48	chr6:34482479-34482529	CMK	blood:	n/a
49	chr6:34482479-34482529	A549	lung:	n/a
50	chr6:34482479-34482529	NB4	blood:	n/a

No data

Variant related genes	Relation type
PACSIN1	TF binding region
PACSIN1	CpG island

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11753634	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35429796	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800471	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs41312309	1.00[ASN][1000 genomes]
rs6919434	1.00[ASN][1000 genomes]
rs73405691	1.00[ASN][1000 genomes]
rs73405697	0.88[EUR][1000 genomes]
rs73407707	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv462904	chr6:34416388-34493012	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv602903	chr6:34416388-34493012	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv885786	chr6:34426884-34542662	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
9	esv1813536	chr6:34455242-34545123	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv885787	chr6:34458533-34546560	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	nsv885788	chr6:34464010-34551912	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
12	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv885789	chr6:34474939-34546560	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
14	nsv1033325	chr6:34482287-34517857	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34441400-34494000	Weak transcription	Right Atrium	heart
2	chr6:34479000-34485200	Enhancers	Fetal Brain Male	brain
3	chr6:34480400-34482600	Enhancers	K562	blood
4	chr6:34482000-34482800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:34482000-34483000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr6:34482000-34483000	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr6:34482200-34482600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr6:34482200-34482600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr6:34482200-34483000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr6:34482200-34483000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:34482200-34483000	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr6:34482200-34483000	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr6:34482200-34483000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:34482200-34483200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:34482200-34483200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr6:34482200-34483200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:34482200-34483200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:34482200-34483400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr6:34482200-34484400	Active TSS	Brain Cingulate Gyrus	brain
20	chr6:34482200-34484400	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr6:34482400-34482600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:34482400-34482600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:34482400-34482600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:34482400-34482600	Enhancers	Brain Angular Gyrus	brain
25	chr6:34482400-34482600	Bivalent Enhancer	Fetal Heart	heart
26	chr6:34482400-34482600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr6:34482400-34482600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
28	chr6:34482400-34482600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
29	chr6:34482400-34482600	Enhancers	Right Ventricle	heart
30	chr6:34482400-34482600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
31	chr6:34482400-34482800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:34482400-34482800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:34482400-34482800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr6:34482400-34482800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:34482400-34482800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr6:34482400-34482800	Active TSS	Fetal Brain Female	brain
37	chr6:34482400-34483000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr6:34482400-34483000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:34482400-34483000	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr6:34482400-34483000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:34482400-34483000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr6:34482400-34483000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:34482400-34483000	Enhancers	Placenta	Placenta
44	chr6:34482400-34483200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:34482400-34483200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:34482400-34483200	Enhancers	Gastric	stomach
47	chr6:34482400-34483200	Enhancers	Ovary	ovary
48	chr6:34482400-34483400	Enhancers	Brain Substantia Nigra	brain
49	chr6:34482400-34484000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:34482400-34485000	Active TSS	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links