Variant report

Variant	rs3730140
Chromosome Location	chr11:67044850-67044851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:148)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:148 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67044298-67045466	GM15510	blood:	n/a	n/a
2	SPI1	chr11:67044797-67045465	HL-60	blood:	n/a	n/a
3	POLR2A	chr11:67044609-67045710	GM12878	blood:	n/a	n/a
4	YY1	chr11:67044815-67045427	GM12892	blood:	n/a	n/a
5	CEBPB	chr11:67044806-67045368	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:67044117-67045544	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr11:67044369-67045491	GM18526	blood:	n/a	n/a
8	MAX	chr11:67044094-67045457	K562	blood:	n/a	chr11:67044379-67044389 chr11:67044354-67044364
9	POLR2A	chr11:67044125-67045620	HUVEC	blood vessel:	n/a	n/a
10	CHD1	chr11:67044743-67045457	GM12878	blood:	n/a	n/a
11	EP300	chr11:67044820-67045279	GM12878	blood:	n/a	chr11:67045120-67045136
12	POLR2A	chr11:67042842-67046261	GM12892	blood:	n/a	n/a
13	HCFC1	chr11:67044416-67045301	K562	blood:	n/a	n/a
14	SIN3A	chr11:67044796-67045359	GM12878	blood:	n/a	n/a
15	TRIM28	chr11:67044787-67045344	K562	blood:	n/a	n/a
16	POLR2A	chr11:67044299-67045471	GM19099	blood:	n/a	n/a
17	TBL1XR1	chr11:67044399-67045246	GM12878	blood:	n/a	n/a
18	SP1	chr11:67044817-67045371	GM12878	blood:	n/a	chr11:67045197-67045206 chr11:67045026-67045035 chr11:67045202-67045211 chr11:67045154-67045166 chr11:67045156-67045165 chr11:67045197-67045207 chr11:67045022-67045036 chr11:67045197-67045206 chr11:67045026-67045036 chr11:67045154-67045166 chr11:67045198-67045207 chr11:67045196-67045208 chr11:67045196-67045208 chr11:67044864-67044878 chr11:67045151-67045165
19	POLR2A	chr11:67041841-67058702	HL-60	blood:	n/a	n/a
20	RCOR1	chr11:67044342-67045183	K562	blood:	n/a	n/a
21	POLR2A	chr11:67044103-67045707	K562	blood:	n/a	n/a
22	EBF1	chr11:67044201-67045437	GM12878	blood:	n/a	n/a
23	RCOR1	chr11:67044369-67045371	K562	blood:	n/a	n/a
24	FOXP2	chr11:67044815-67045403	PFSK-1	brain:	n/a	n/a
25	CUX1	chr11:67044819-67045157	K562	blood:	n/a	n/a
26	TCF12	chr11:67044821-67045377	GM12878	blood:	n/a	n/a
27	ZNF263	chr11:67044684-67045053	HEK293-T-REx	kidney:	n/a	n/a
28	GABPA	chr11:67044759-67045434	K562	blood:	n/a	n/a
29	HDAC2	chr11:67044832-67045179	K562	blood:	n/a	n/a
30	POU2F2	chr11:67044649-67045530	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:67044190-67045826	GM18505	blood:	n/a	n/a
32	E2F6	chr11:67044125-67045233	K562	blood:	n/a	n/a
33	BCLAF1	chr11:67044749-67045413	GM12878	blood:	n/a	n/a
34	ZNF143	chr11:67044383-67045058	K562	blood:	n/a	n/a
35	EP300	chr11:67044821-67045318	GM12878	blood:	n/a	chr11:67045120-67045136
36	POLR2A	chr11:67044085-67046238	GM12891	blood:	n/a	n/a
37	RELA	chr11:67044356-67045579	GM18951	blood:	n/a	n/a
38	SMC3	chr11:67044272-67045236	GM12878	blood:	n/a	chr11:67044502-67044516
39	YY1	chr11:67044384-67045466	K562	blood:	n/a	chr11:67044543-67044552
40	JUND	chr11:67044376-67045368	K562	blood:	n/a	chr11:67044731-67044742
41	RUNX3	chr11:67044386-67045396	GM12878	blood:	n/a	n/a
42	POLR2A	chr11:67044837-67045370	ECC-1	luminal epithelium:	n/a	n/a
43	NFIC	chr11:67044350-67045439	GM12878	blood:	n/a	n/a
44	MAZ	chr11:67044257-67045620	IMR90	lung:	n/a	n/a
45	POLR2A	chr11:67044501-67045465	K562	blood:	n/a	n/a
46	STAT5A	chr11:67044270-67045511	GM12878	blood:	n/a	chr11:67045198-67045210
47	POLR2A	chr11:67044095-67046434	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:67044346-67045586	GM12892	blood:	n/a	n/a
49	ZMIZ1	chr11:67044404-67045625	K562	blood:	n/a	n/a
50	MAX	chr11:67044086-67045478	NB4	blood:	n/a	chr11:67044379-67044389 chr11:67044354-67044364

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67044849-67044899	GM12892	blood:	n/a
2	chr11:67044849-67044899	U87	brain:	n/a
3	chr11:67044849-67044899	HL-60	blood:	n/a
4	chr11:67044849-67044899	GM12891	blood:	n/a
5	chr11:67044849-67044899	ECC-1	luminal epithelium:	n/a
6	chr11:67044849-67044899	Hela-S3	cervix:	n/a
7	chr11:67044849-67044899	HRCEpiC	kidney:	n/a
8	chr11:67044849-67044899	AoSMC	blood vessel:	n/a
9	chr11:67044849-67044899	HCM	heart:	n/a
10	chr11:67044849-67044899	T-47D	breast:	n/a
11	chr11:67044849-67044899	NHBE	bronchial:	n/a
12	chr11:67044849-67044899	PrEC	prostate:	n/a
13	chr11:67044849-67044899	AG10803	skin:	n/a
14	chr11:67044849-67044899	BJ	skin:	n/a
15	chr11:67044849-67044899	SKMC	muscle:	n/a
16	chr11:67044849-67044899	AG09319	gingival:	n/a
17	chr11:67044849-67044899	HUVEC	blood vessel:	n/a
18	chr11:67044849-67044899	ProgFib	skin:	n/a
19	chr11:67044849-67044899	Caco-2	colon:	n/a
20	chr11:67044849-67044899	AG04449	skin:	fetal
21	chr11:67044849-67044899	GM19239	blood:	n/a
22	chr11:67044849-67044899	SK-N-SH	brain:	n/a
23	chr11:67044849-67044899	AG09309	skin:	n/a
24	chr11:67044849-67044899	SK-N-MC	brain:	n/a
25	chr11:67044849-67044899	MCF-7	breast:	n/a
26	chr11:67044849-67044899	HRPEpiC	eye:	n/a
27	chr11:67044849-67044899	SAEC	small airway:	n/a
28	chr11:67044849-67044899	HMEC	breast:	n/a
29	chr11:67044849-67044899	NH-A	brain:	n/a
30	chr11:67044849-67044899	HAEpiC	amniotic membrane:	n/a
31	chr11:67044849-67044899	HEK293	kidney:	embryo
32	chr11:67044849-67044899	Jurkat	blood:	n/a
33	chr11:67044849-67044899	HCPEpiC	choroid plexus:	n/a
34	chr11:67044849-67044899	PANC-1	pancreas:	n/a
35	chr11:67044849-67044899	SK-N-SH_RA	brain:	n/a
36	chr11:67044849-67044899	HepG2	liver:	n/a
37	chr11:67044849-67044899	LNCaP	prostate:	n/a
38	chr11:67044849-67044899	HIPEpiC	eye:	n/a
39	chr11:67044849-67044899	AG04450	lung:	fetal
40	chr11:67044849-67044899	K562	blood:	n/a
41	chr11:67044849-67044899	A549	lung:	n/a
42	chr11:67044849-67044899	NT2-D1	testis:	n/a
43	chr11:67044849-67044899	BE2_C	brain:	n/a
44	chr11:67044849-67044899	Hepatocyte	liver:	n/a
45	chr11:67044849-67044899	RPTEC	kidney:	n/a
46	chr11:67044849-67044899	HRE	kidney:	n/a
47	chr11:67044849-67044899	HCF	heart:	n/a
48	chr11:67044849-67044899	ovcar-3	ovarian:	n/a
49	chr11:67044849-67044899	CMK	blood:	n/a
50	chr11:67044849-67044899	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:67044055..67045017-chr11:67084748..67085251,2	K562	blood:
2	chr11:67041964..67046049-chr11:67065840..67069328,4	K562	blood:
3	chr11:67040558..67045868-chr11:67119770..67124610,5	K562	blood:
4	chr11:67044110..67045682-chr11:67070507..67072477,2	K562	blood:
5	chr11:67044106..67046398-chr11:67138784..67140765,2	K562	blood:

No data

Variant related genes	Relation type
ADRBK1	TF binding region
ADRBK1	CpG island
ENSG00000172932	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000172830	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12279818	0.92[AMR][1000 genomes]
rs12285097	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12417116	0.95[AMR][1000 genomes]
rs12417770	0.97[AMR][1000 genomes]
rs12418407	1.00[CHB][hapmap];0.85[AMR][1000 genomes]
rs12419315	0.85[AFR][1000 genomes]
rs12420556	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12420594	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12421018	0.95[AMR][1000 genomes]
rs12421536	1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1573536	0.97[AMR][1000 genomes]
rs1574103	1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17148080	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17148183	1.00[CHB][hapmap];0.88[AMR][1000 genomes]
rs2066494	1.00[CHB][hapmap];0.85[AFR][1000 genomes]
rs28364240	0.85[AMR][1000 genomes]
rs4084238	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4382915	0.91[AMR][1000 genomes]
rs4567468	0.92[AMR][1000 genomes]
rs4930198	1.00[CHB][hapmap];0.87[AMR][1000 genomes]
rs4930414	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4930415	1.00[CHB][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4930416	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61525626	0.85[AMR][1000 genomes]
rs61731786	0.97[AMR][1000 genomes]
rs61758493	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61759803	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61759806	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61763963	1.00[EUR][1000 genomes]
rs7396248	1.00[CHB][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs885833	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs887315	1.00[CHB][hapmap];0.89[AMR][1000 genomes]
rs887316	1.00[CHB][hapmap]
rs887318	1.00[CHB][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	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897798	chr11:67024534-67065858	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
9	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
10	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
11	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67035600-67046400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr11:67037200-67055800	Genic enhancers	Spleen	Spleen
3	chr11:67037800-67046200	Enhancers	Stomach Mucosa	stomach
4	chr11:67037800-67046800	Weak transcription	Aorta	Aorta
5	chr11:67038200-67055200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:67038400-67045800	Genic enhancers	Fetal Intestine Small	intestine
7	chr11:67038400-67047000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:67040800-67045400	Enhancers	Placenta	Placenta
9	chr11:67041800-67045800	Enhancers	Fetal Heart	heart
10	chr11:67042000-67045200	Enhancers	Brain Hippocampus Middle	brain
11	chr11:67042000-67045800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:67042200-67045000	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr11:67042200-67045000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr11:67042200-67045600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:67042400-67045600	Genic enhancers	Pancreas	Pancrea
16	chr11:67042400-67046800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
17	chr11:67042400-67048000	Genic enhancers	Lung	lung
18	chr11:67042600-67045400	Genic enhancers	Fetal Brain Female	brain
19	chr11:67042800-67045200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
20	chr11:67042800-67045400	Enhancers	Brain Cingulate Gyrus	brain
21	chr11:67043000-67045600	Enhancers	Brain Angular Gyrus	brain
22	chr11:67043000-67045800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr11:67043000-67048000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr11:67043200-67045800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr11:67043200-67046000	Transcr. at gene 5' and 3'	Dnd41	blood
26	chr11:67043200-67046400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:67043200-67047000	Weak transcription	Ovary	ovary
28	chr11:67043400-67045200	Genic enhancers	Brain Germinal Matrix	brain
29	chr11:67043400-67054800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:67043600-67045000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:67043600-67045000	Enhancers	Fetal Brain Male	brain
32	chr11:67043600-67045600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr11:67043600-67045600	Genic enhancers	Brain Inferior Temporal Lobe	brain
34	chr11:67043600-67045800	Enhancers	Small Intestine	intestine
35	chr11:67043600-67045800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
36	chr11:67043600-67046400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr11:67043600-67047600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:67043800-67045800	Enhancers	Fetal Lung	lung
39	chr11:67043800-67046000	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr11:67044000-67045000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:67044000-67045000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr11:67044000-67045000	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr11:67044000-67045200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr11:67044000-67045600	Enhancers	Gastric	stomach
45	chr11:67044000-67045800	Genic enhancers	Fetal Intestine Large	intestine
46	chr11:67044000-67046000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
47	chr11:67044000-67046000	Flanking Active TSS	Thymus	Thymus
48	chr11:67044200-67045000	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr11:67044200-67045000	Enhancers	Fetal Kidney	kidney
50	chr11:67044200-67045200	Enhancers	Primary hematopoietic stem cells	blood

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