Variant report

Variant	rs16891466
Chromosome Location	chr6:26235737-26235738
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:26232957-26235746	K562	blood:	n/a	n/a
2	TAF7	chr6:26235499-26235862	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr6:26230227-26235776	H1-hESC	embryonic stem cell:	n/a	n/a
4	TCF12	chr6:26233245-26235845	A549	lung:	n/a	n/a
5	NFIC	chr6:26233113-26235739	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:26233034-26244857	K562	blood:	n/a	n/a
7	STAT3	chr6:26235674-26235797	MCF10A-Er-Src	breast:	n/a	n/a
8	JUN	chr6:26235680-26235961	K562	blood:	n/a	n/a
9	GATA1	chr6:26232989-26235887	PBDE	blood:	n/a	chr6:26235868-26235875 chr6:26235866-26235876 chr6:26235866-26235875

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:26235699-26235749	PANC-1	pancreas:	n/a
2	chr6:26235699-26235749	CMK	blood:	n/a
3	chr6:26235699-26235749	Jurkat	blood:	n/a
4	chr6:26235699-26235749	GM19239	blood:	n/a
5	chr6:26235699-26235749	HEK293	kidney:	embryo
6	chr6:26235699-26235749	ovcar-3	ovarian:	n/a
7	chr6:26235699-26235749	HL-60	blood:	n/a
8	chr6:26235699-26235749	PFSK-1	brain:	n/a
9	chr6:26235699-26235749	HIPEpiC	eye:	n/a
10	chr6:26235699-26235749	RPTEC	kidney:	n/a
11	chr6:26235699-26235749	Hepatocyte	liver:	n/a
12	chr6:26235699-26235749	GM12878	blood:	n/a
13	chr6:26235699-26235749	SKMC	muscle:	n/a
14	chr6:26235699-26235749	HUVEC	blood vessel:	n/a
15	chr6:26235699-26235749	SK-N-SH	brain:	n/a
16	chr6:26235699-26235749	HRCEpiC	kidney:	n/a
17	chr6:26235699-26235749	HPAEpiC	pulmonary alveolar:	n/a
18	chr6:26235699-26235749	SK-N-SH_RA	brain:	n/a
19	chr6:26235699-26235749	HCPEpiC	choroid plexus:	n/a
20	chr6:26235699-26235749	IMR90	lung:	fetal
21	chr6:26235699-26235749	HCT-116	colon:	n/a
22	chr6:26235699-26235749	ProgFib	skin:	n/a
23	chr6:26235699-26235749	NH-A	brain:	n/a
24	chr6:26235699-26235749	AG09309	skin:	n/a
25	chr6:26235699-26235749	AG04449	skin:	fetal
26	chr6:26235699-26235749	K562	blood:	n/a
27	chr6:26235699-26235749	BE2_C	brain:	n/a
28	chr6:26235699-26235749	Hela-S3	cervix:	n/a
29	chr6:26235699-26235749	LNCaP	prostate:	n/a
30	chr6:26235699-26235749	HNPCEpiC	eye:	n/a
31	chr6:26235699-26235749	GM12891	blood:	n/a
32	chr6:26235699-26235749	AG09319	gingival:	n/a
33	chr6:26235699-26235749	ECC-1	luminal epithelium:	n/a
34	chr6:26235699-26235749	HepG2	liver:	n/a
35	chr6:26235699-26235749	H1-hESC	embryonic stem cell:	embryo
36	chr6:26235699-26235749	HCM	heart:	n/a
37	chr6:26235699-26235749	GM12892	blood:	n/a
38	chr6:26235699-26235749	AG10803	skin:	n/a
39	chr6:26235699-26235749	PrEC	prostate:	n/a
40	chr6:26235699-26235749	AoSMC	blood vessel:	n/a
41	chr6:26235699-26235749	HCF	heart:	n/a
42	chr6:26235699-26235749	MCF10A-Er-Src	breast:	n/a
43	chr6:26235699-26235749	HRE	kidney:	n/a
44	chr6:26235699-26235749	HRPEpiC	eye:	n/a
45	chr6:26235699-26235749	HAEpiC	amniotic membrane:	n/a
46	chr6:26235699-26235749	AG04450	lung:	fetal
47	chr6:26235699-26235749	NHBE	bronchial:	n/a
48	chr6:26235699-26235749	SK-N-MC	brain:	n/a
49	chr6:26235699-26235749	Caco-2	colon:	n/a
50	chr6:26235699-26235749	NB4	blood:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:24719968..24721731-chr6:26234799..26237042,2	K562	blood:
2	chr6:26031185..26034143-chr6:26233658..26236359,2	MCF-7	breast:
3	chr6:26225043..26225693-chr6:26235156..26235831,2	MCF-7	breast:
4	chr6:26231234..26236589-chr6:27099738..27104932,8	K562	blood:
5	chr17:56736343..56738004-chr6:26233634..26236262,2	MCF-7	breast:
6	chr6:26020523..26023508-chr6:26233779..26236758,2	MCF-7	breast:
7	chr15:74753352..74756015-chr6:26233514..26236458,2	K562	blood:
8	chr3:28388905..28390597-chr6:26234908..26237633,2	K562	blood:
9	chr6:26234528..26236146-chr6:26520612..26523386,2	K562	blood:
10	chr6:26233781..26236628-chr6:27113286..27115220,2	K562	blood:
11	chr16:2009340..2011468-chr6:26233811..26235989,2	MCF-7	breast:

No data

Variant related genes	Relation type
HIST1H1D	TF binding region
HIST1H4F	TF binding region
HIST1H4F	CpG island
HIST1H1D	CpG island
ENSG00000202077	Chromatin interaction
ENSG00000196966	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000228223	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000112308	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000163512	Chromatin interaction
ENSG00000140990	Chromatin interaction
ENSG00000198366	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000138629	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000247240	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10452600	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10484436	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753131	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753625	0.88[EUR][1000 genomes]
rs11753655	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11754744	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11755210	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11755943	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11757394	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11757754	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758351	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11759904	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1341759	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16891378	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16891397	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16891401	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16891405	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16891443	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16891446	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16891455	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16891456	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16891467	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16891474	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16891481	0.98[ASN][1000 genomes]
rs17598927	0.86[EUR][1000 genomes]
rs1997768	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2022448	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2050948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2050950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2069018	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2069019	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2069020	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2143345	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2143346	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2143347	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2183948	0.87[EUR][1000 genomes]
rs3757135	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs41266801	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41266807	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55643278	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55815656	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55848726	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56186759	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56220351	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56398712	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv1025237	chr6:25874326-26280867	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
6	nsv538163	chr6:25874326-26280867	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
7	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
8	nsv916992	chr6:25991630-26280921	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1159 gene(s)	inside rSNPs	diseases
9	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
10	nsv870314	chr6:26008435-26280807	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1151 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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
15	nsv482348	chr6:26082709-26261136	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	799 gene(s)	inside rSNPs	diseases
16	nsv1021294	chr6:26190316-26246784	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	309 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26231200-26236000	Active TSS	Thymus	Thymus
2	chr6:26232400-26236000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:26232600-26235800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr6:26232800-26235800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:26232800-26235800	Active TSS	Fetal Lung	lung
6	chr6:26233000-26235800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr6:26233000-26235800	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr6:26233000-26235800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
9	chr6:26233000-26236000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr6:26233000-26236000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:26233200-26235800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr6:26233200-26235800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr6:26233200-26235800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:26233200-26235800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:26233200-26235800	Active TSS	Fetal Stomach	stomach
16	chr6:26233200-26235800	Active TSS	Rectal Smooth Muscle	rectum
17	chr6:26233200-26235800	Flanking Active TSS	HUVEC	blood vessel
18	chr6:26233200-26235800	Active TSS	NHLF	lung
19	chr6:26233200-26236000	Active TSS	Fetal Kidney	kidney
20	chr6:26233200-26236000	Active TSS	A549	lung
21	chr6:26233400-26235800	Active TSS	H9 Cell Line	embryonic stem cell
22	chr6:26233600-26235800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:26233600-26235800	Active TSS	Fetal Intestine Small	intestine
24	chr6:26233600-26235800	Bivalent/Poised TSS	NHDF-Ad	bronchial
25	chr6:26233600-26236000	Active TSS	H1 Cell Line	embryonic stem cell
26	chr6:26233800-26235800	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr6:26233800-26235800	Active TSS	Fetal Heart	heart
28	chr6:26234000-26235800	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr6:26234000-26235800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:26234000-26235800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr6:26234000-26235800	Active TSS	Fetal Intestine Large	intestine
32	chr6:26234000-26235800	Flanking Bivalent TSS/Enh	HepG2	liver
33	chr6:26234200-26235800	Active TSS	Duodenum Mucosa	Duodenum
34	chr6:26234200-26235800	Active TSS	Right Ventricle	heart
35	chr6:26234200-26235800	Active TSS	GM12878-XiMat	blood
36	chr6:26234200-26236000	Active TSS	Fetal Thymus	thymus
37	chr6:26234400-26235800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:26234400-26235800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr6:26234600-26235800	Active TSS	Fetal Brain Male	brain
40	chr6:26234800-26235800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:26234800-26235800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr6:26234800-26235800	Active TSS	Fetal Brain Female	brain
43	chr6:26234800-26235800	Active TSS	Fetal Muscle Leg	muscle
44	chr6:26234800-26235800	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr6:26234800-26235800	Active TSS	NH-A	brain
46	chr6:26234800-26236200	Active TSS	K562	blood
47	chr6:26235000-26235800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:26235000-26235800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:26235000-26235800	Active TSS	Fetal Muscle Trunk	muscle
50	chr6:26235000-26235800	Active TSS	Dnd41	blood

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