Variant report

Variant	rs16891518
Chromosome Location	chr6:26285908-26285909
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:595)
CpG islands
(count:0)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:595 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr6:26285382-26285943	HUVEC	blood vessel:	n/a	n/a
2	GATA3	chr6:26284674-26286293	SK-N-SH	brain:	n/a	chr6:26286024-26286040 chr6:26285118-26285129 chr6:26286021-26286042
3	PBX3	chr6:26285309-26285983	A549	lung:	n/a	n/a
4	RCOR1	chr6:26285438-26286926	HepG2	liver:	n/a	n/a
5	ATF2	chr6:26284679-26286980	GM12878	blood:	n/a	n/a
6	TAF1	chr6:26285238-26286790	K562	blood:	n/a	n/a
7	POLR2A	chr6:26285437-26286064	HepG2	liver:	n/a	n/a
8	JUND	chr6:26284991-26286806	Hela-S3	cervix:	n/a	chr6:26285885-26285894
9	REST	chr6:26285357-26285987	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr6:26284678-26286155	GM18951	blood:	n/a	n/a
11	EP300	chr6:26285412-26285996	MCF-7	breast:	n/a	n/a
12	YY1	chr6:26284759-26286005	K562	blood:	n/a	chr6:26284975-26284991 chr6:26284979-26284987 chr6:26284976-26284986 chr6:26284976-26284986 chr6:26284976-26284998
13	REST	chr6:26285302-26286090	PANC-1	pancreas:	n/a	n/a
14	ETS1	chr6:26285338-26285985	K562	blood:	n/a	n/a
15	EBF1	chr6:26285405-26286158	GM12878	blood:	n/a	n/a
16	CREB1	chr6:26285115-26286170	K562	blood:	n/a	chr6:26285883-26285896
17	POLR2A	chr6:26285235-26286180	A549	lung:	n/a	n/a
18	POLR2A	chr6:26283878-26286821	ECC-1	luminal epithelium:	n/a	n/a
19	JUND	chr6:26285286-26286228	SK-N-SH	brain:	n/a	chr6:26285885-26285894
20	JUN	chr6:26285431-26286128	H1-hESC	embryonic stem cell:	n/a	chr6:26285885-26285894 chr6:26285881-26285894
21	NFIC	chr6:26284857-26286969	GM12878	blood:	n/a	n/a
22	ELF1	chr6:26285389-26286105	SK-N-SH	brain:	n/a	chr6:26285931-26285940 chr6:26285921-26285933
23	TBP	chr6:26285513-26286035	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr6:26285308-26286268	Hela-S3	cervix:	n/a	n/a
25	CBX3	chr6:26285145-26286329	K562	blood:	n/a	n/a
26	BHLHE40	chr6:26284805-26286930	K562	blood:	n/a	n/a
27	TAF1	chr6:26285230-26286324	K562	blood:	n/a	n/a
28	TAF1	chr6:26284689-26286339	A549	lung:	n/a	n/a
29	ZKSCAN1	chr6:26285305-26286218	Hela-S3	cervix:	n/a	n/a
30	FOSL2	chr6:26285234-26286148	A549	lung:	n/a	chr6:26285885-26285894
31	GABPA	chr6:26285581-26285962	Hela-S3	cervix:	n/a	n/a
32	SIN3AK20	chr6:26284502-26286418	MCF-7	breast:	n/a	n/a
33	EP300	chr6:26285363-26286026	SK-N-SH_RA	brain:	n/a	n/a
34	POLR2A	chr6:26284670-26286395	SK-N-MC	brain:	n/a	n/a
35	ELF1	chr6:26285356-26286272	HepG2	liver:	n/a	chr6:26285931-26285940 chr6:26285921-26285933
36	POU2F2	chr6:26285327-26285951	GM12878	blood:	n/a	n/a
37	MYC	chr6:26285098-26286895	H1-hESC	embryonic stem cell:	n/a	n/a
38	TAF1	chr6:26285384-26286008	H1-neurons	neurons:	n/a	n/a
39	MAX	chr6:26285346-26286307	HepG2	liver:	n/a	n/a
40	POLR2A	chr6:26284059-26286985	SK-N-SH	brain:	n/a	n/a
41	EP300	chr6:26285509-26286000	T-47D	breast:	n/a	n/a
42	POLR2A	chr6:26283967-26286207	MCF-7	breast:	n/a	n/a
43	YY1	chr6:26285324-26285986	ECC-1	luminal epithelium:	n/a	n/a
44	JUND	chr6:26285305-26286224	MCF-7	breast:	n/a	chr6:26285885-26285894
45	EP300	chr6:26285485-26286072	Hela-S3	cervix:	n/a	n/a
46	FOXM1	chr6:26285397-26285998	SK-N-SH	brain:	n/a	n/a
47	ELK4	chr6:26284976-26286115	HEK293	kidney:	n/a	chr6:26286088-26286096 chr6:26286088-26286097
48	BATF	chr6:26285304-26285959	GM12878	blood:	n/a	chr6:26285883-26285896
49	NFYB	chr6:26285467-26285960	K562	blood:	n/a	n/a
50	TCF12	chr6:26284727-26286204	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26285399..26286141-chr8:37963031..37963564,2	Hela-S3	cervix:
2	chr6:26285383..26287322-chr6:26595667..26597252,2	K562	blood:
3	chr6:26285546..26288000-chr6:26593708..26598025,4	K562	blood:
4	chr22:37594612..37596195-chr6:26285298..26287282,2	MCF-7	breast:
5	chr6:26284169..26287182-chr6:27098843..27102282,9	MCF-7	breast:
6	chr17:6544259..6544907-chr6:26285645..26286190,2	Hela-S3	cervix:
7	chr16:56965492..56966128-chr6:26285204..26286136,3	Hela-S3	cervix:
8	chr6:26282374..26290542-chr6:27772727..27779446,9	MCF-7	breast:
9	chr6:26284926..26288844-chr6:27112544..27117256,7	MCF-7	breast:
10	chr14:21571437..21571999-chr6:26285520..26286117,2	Hela-S3	cervix:
11	chr6:26283553..26288411-chr6:27099109..27103890,9	K562	blood:
12	chr6:26283501..26289776-chr6:27108470..27116413,14	K562	blood:
13	chr16:18812557..18813104-chr6:26285470..26285979,2	NB4	blood:
14	chr6:26285041..26286006-chrX:16737147..16738171,3	Hela-S3	cervix:
15	chr6:26285889..26287811-chr6:26576369..26578960,2	K562	blood:
16	chr17:50443509..50445009-chr6:26285795..26287525,2	K562	blood:
17	chr6:26285002..26288145-chr6:27106372..27109970,3	K562	blood:
18	chr1:41949707..41951692-chr6:26284096..26286311,2	MCF-7	breast:
19	chr6:26284595..26286782-chr6:26439423..26441341,2	K562	blood:
20	chr6:26284431..26286748-chr6:26538592..26541230,2	K562	blood:
21	chr6:26285335..26286032-chrX:71458684..71459437,2	NB4	blood:
22	chr6:26054309..26057181-chr6:26284749..26286697,3	MCF-7	breast:
23	chr17:33288112..33288853-chr6:26285430..26286109,2	Hela-S3	cervix:
24	chr20:30194581..30195261-chr6:26285315..26286091,2	Hela-S3	cervix:
25	chr6:26284256..26286912-chr6:27114805..27118000,3	K562	blood:
26	chr19:5719745..5720291-chr6:26285209..26285930,2	Hela-S3	cervix:
27	chr17:41380482..41382083-chr6:26284329..26287201,2	MCF-7	breast:
28	chr6:26283553..26287733-chr6:27097522..27103890,12	K562	blood:
29	chr6:26285002..26287189-chr6:27105491..27107872,2	K562	blood:
30	chr1:153599385..153600186-chr6:26285196..26286148,2	Hela-S3	cervix:
31	chr6:26280754..26288136-chr6:27109918..27116629,16	MCF-7	breast:
32	chr22:43411047..43411857-chr6:26285035..26285966,2	NB4	blood:
33	chr6:26204474..26205349-chr6:26285399..26286292,4	Hela-S3	cervix:
34	chr6:26283604..26286375-chr6:27859105..27861545,3	K562	blood:
35	chr6:26284286..26286997-chr6:26519588..26522057,2	K562	blood:
36	chr6:26285137..26286889-chr6:27219184..27221854,2	MCF-7	breast:

No data

Variant related genes	Relation type
HIST1H4H	TF binding region
ENSG00000189171	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000186871	Chromatin interaction
ENSG00000182952	Chromatin interaction
ENSG00000199289	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000100266	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000129235	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000260342	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000170540	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000165804	Chromatin interaction
ENSG00000146109	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000198518	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000198783	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000111801	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000129691	Chromatin interaction
ENSG00000133466	Chromatin interaction
ENSG00000236383	Chromatin interaction
ENSG00000112812	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000051108	Chromatin interaction
ENSG00000127129	Chromatin interaction
ENSG00000132141	Chromatin interaction
ENSG00000169895	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000196365	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1000308	0.85[YRI][hapmap]
rs10484437	0.85[MKK][hapmap]
rs11966360	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1341758	0.96[MKK][hapmap]
rs16891417	0.96[MKK][hapmap]
rs16891497	0.85[YRI][hapmap]
rs16891501	0.85[YRI][hapmap]
rs16891509	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16891512	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16891517	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16891549	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17533076	0.96[MKK][hapmap]
rs17600910	0.91[MKK][hapmap]
rs1883212	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34550794	0.96[MKK][hapmap]
rs3778278	1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs41266827	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7450543	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9366639	0.87[MKK][hapmap]
rs9379827	0.91[MKK][hapmap]
rs9379829	0.91[MKK][hapmap]
rs989710	0.96[MKK][hapmap]

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	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
4	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
5	nsv428137	chr6:25987413-26351920	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1181 gene(s)	inside rSNPs	diseases
6	nsv1028232	chr6:26005449-26319756	Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1171 gene(s)	inside rSNPs	diseases
7	nsv1023457	chr6:26014014-26305407	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1170 gene(s)	inside rSNPs	diseases
8	nsv1023979	chr6:26026870-26287399	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1113 gene(s)	inside rSNPs	diseases
9	nsv1015782	chr6:26026870-26323895	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1114 gene(s)	inside rSNPs	diseases
10	nsv1018665	chr6:26026870-26352046	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1116 gene(s)	inside rSNPs	diseases
11	nsv601173	chr6:26239404-26322524	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	184 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16891518	HIST1H2BG	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26282800-26287200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr6:26283000-26286800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:26283400-26286800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:26283400-26286800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:26283400-26286800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr6:26283400-26287200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr6:26283400-26287200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr6:26283400-26287200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr6:26283600-26286800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:26283600-26287000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr6:26283600-26287000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:26283600-26287200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr6:26283600-26287200	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr6:26283600-26287200	Active TSS	Thymus	Thymus
15	chr6:26283800-26286800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:26283800-26286800	Active TSS	Aorta	Aorta
17	chr6:26283800-26286800	Active TSS	NHLF	lung
18	chr6:26283800-26287000	Active TSS	Fetal Intestine Large	intestine
19	chr6:26283800-26287000	Active TSS	K562	blood
20	chr6:26283800-26287200	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr6:26283800-26287200	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr6:26284000-26286600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:26284000-26286800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:26284000-26286800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:26284000-26286800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:26284000-26286800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr6:26284000-26286800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:26284000-26286800	Active TSS	Brain Substantia Nigra	brain
29	chr6:26284000-26286800	Active TSS	HSMMtube	muscle
30	chr6:26284000-26287000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:26284000-26287000	Active TSS	Fetal Kidney	kidney
32	chr6:26284000-26287000	Active TSS	Fetal Lung	lung
33	chr6:26284000-26287200	Active TSS	Rectal Smooth Muscle	rectum
34	chr6:26284000-26287200	Active TSS	A549	lung
35	chr6:26284200-26286800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:26284200-26286800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:26284200-26286800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:26284200-26286800	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr6:26284200-26286800	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr6:26284200-26287000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:26284200-26287000	Active TSS	Colon Smooth Muscle	Colon
42	chr6:26284200-26287000	Active TSS	Fetal Brain Female	brain
43	chr6:26284200-26287000	Active TSS	NH-A	brain
44	chr6:26284200-26287000	Active TSS	NHDF-Ad	bronchial
45	chr6:26284200-26287200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:26284200-26287200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:26284400-26286600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr6:26284400-26286600	Active TSS	Esophagus	oesophagus
49	chr6:26284400-26286800	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr6:26284400-26286800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links