Variant report

Variant	rs6591187
Chromosome Location	chr11:65460086-65460087
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr11:65459920-65460201	K562	blood:	n/a	n/a
2	USF1	chr11:65459923-65460297	K562	blood:	n/a	n/a
3	ZBTB7A	chr11:65460060-65460315	K562	blood:	n/a	n/a
4	MAFK	chr11:65459929-65460235	K562	blood:	n/a	n/a
5	RCOR1	chr11:65459861-65460288	K562	blood:	n/a	n/a
6	MAX	chr11:65459784-65460339	K562	blood:	n/a	n/a
7	USF1	chr11:65459923-65460301	K562	blood:	n/a	n/a
8	NR2F2	chr11:65459729-65460333	K562	blood:	n/a	n/a
9	MAX	chr11:65459839-65460139	K562	blood:	n/a	n/a
10	TEAD4	chr11:65459734-65460086	K562	blood:	n/a	n/a
11	MAZ	chr11:65459989-65460258	K562	blood:	n/a	n/a
12	TEAD4	chr11:65459709-65460214	K562	blood:	n/a	n/a
13	TAF1	chr11:65459854-65460226	K562	blood:	n/a	n/a
14	TBL1XR1	chr11:65459832-65460150	K562	blood:	n/a	n/a
15	POLR2A	chr11:65459829-65460371	K562	blood:	n/a	n/a
16	HEY1	chr11:65459832-65460263	K562	blood:	n/a	n/a
17	GATA3	chr11:65459978-65460261	T-47D	breast:	n/a	n/a
18	EP300	chr11:65459767-65460224	K562	blood:	n/a	n/a
19	ELF1	chr11:65460006-65460270	K562	blood:	n/a	n/a
20	HCFC1	chr11:65460020-65460194	K562	blood:	n/a	n/a
21	ZNF384	chr11:65459981-65460138	K562	blood:	n/a	n/a
22	POLR2A	chr11:65459904-65460215	K562	blood:	n/a	n/a
23	MAX	chr11:65459928-65460279	K562	blood:	n/a	n/a
24	JUND	chr11:65460050-65460164	K562	blood:	n/a	n/a
25	UBTF	chr11:65459999-65460169	K562	blood:	n/a	n/a
26	ELF1	chr11:65459795-65460288	K562	blood:	n/a	n/a
27	POLR2A	chr11:65459780-65460237	K562	blood:	n/a	n/a
28	MYC	chr11:65459995-65460210	K562	blood:	n/a	n/a
29	ZMIZ1	chr11:65459827-65460273	K562	blood:	n/a	n/a
30	HEY1	chr11:65459883-65460250	K562	blood:	n/a	n/a
31	CBX3	chr11:65459700-65460266	K562	blood:	n/a	n/a
32	YY1	chr11:65459901-65460231	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:65409585..65411710-chr11:65458373..65461012,2	K562	blood:
2	chr11:65460052..65461872-chr11:65624502..65627062,2	K562	blood:
3	chr11:65458517..65461171-chr11:65617929..65620482,3	K562	blood:
4	chr11:65458517..65460598-chr11:65618982..65621135,2	K562	blood:
5	chr11:65452095..65454956-chr11:65458609..65460988,3	MCF-7	breast:

No data

Variant related genes	Relation type
RN7SL309P	TF binding region
ENSG00000213445	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172732	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1073602	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1074155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1074156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10791822	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896025	0.97[ASN][1000 genomes]
rs10896026	0.97[ASN][1000 genomes]
rs10896028	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896033	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896034	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10896035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896037	0.85[ASN][1000 genomes]
rs10896038	0.85[ASN][1000 genomes]
rs11227251	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227254	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227279	0.85[ASN][1000 genomes]
rs11227281	0.85[ASN][1000 genomes]
rs11532071	0.85[ASN][1000 genomes]
rs11537193	0.85[ASN][1000 genomes]
rs11568300	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11600918	0.85[ASN][1000 genomes]
rs11601509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11604568	0.85[ASN][1000 genomes]
rs11606947	0.85[ASN][1000 genomes]
rs12225620	0.85[ASN][1000 genomes]
rs12289836	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12576766	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12802391	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1466462	0.98[ASN][1000 genomes]
rs2236682	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2306362	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28464085	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4014192	0.85[ASN][1000 genomes]
rs4014195	0.85[ASN][1000 genomes]
rs4645927	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4645933	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4930312	0.85[ASN][1000 genomes]
rs4930313	0.85[ASN][1000 genomes]
rs4930319	0.80[ASN][1000 genomes]
rs56686587	0.85[ASN][1000 genomes]
rs60626743	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61893835	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61895665	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6591185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6591188	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7110576	0.85[ASN][1000 genomes]
rs7115734	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7120713	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7123489	0.88[ASN][1000 genomes]
rs746429	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7924510	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7930301	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7947604	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7952133	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9666878	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
2	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
3	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv897735	chr11:65335705-65481166	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
6	nsv897747	chr11:65353906-65481166	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
7	nsv897748	chr11:65392695-65466911	Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv897755	chr11:65405300-65481166	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
9	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65458600-65461200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:65459400-65466200	Enhancers	Stomach Mucosa	stomach
3	chr11:65459800-65460200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:65459800-65460200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:65459800-65460200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
6	chr11:65459800-65460200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr11:65459800-65460400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:65459800-65460400	Enhancers	Colonic Mucosa	Colon
9	chr11:65459800-65460400	Enhancers	Esophagus	oesophagus
10	chr11:65459800-65460400	Enhancers	Fetal Intestine Large	intestine
11	chr11:65459800-65460400	Enhancers	Fetal Intestine Small	intestine
12	chr11:65459800-65460400	Flanking Active TSS	K562	blood
13	chr11:65460000-65460200	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr11:65460000-65460200	Enhancers	Pancreas	Pancrea
15	chr11:65460000-65460200	Enhancers	Right Ventricle	heart
16	chr11:65460000-65460400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr11:65460000-65460400	Enhancers	Gastric	stomach

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