Variant report

Variant	rs61884471
Chromosome Location	chr11:45826561-45826562
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr11:45826256-45826852	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr11:45826520-45826670	AG10803	skin:	n/a	chr11:45826536-45826554 chr11:45826539-45826552
3	CTCF	chr11:45826440-45826590	GM12867	blood:	n/a	chr11:45826536-45826554 chr11:45826539-45826552
4	SP1	chr11:45826140-45827209	A549	lung:	n/a	chr11:45826584-45826595 chr11:45826616-45826627 chr11:45827059-45827072 chr11:45826560-45826572 chr11:45826562-45826571 chr11:45826560-45826572 chr11:45826651-45826661 chr11:45826770-45826784 chr11:45826769-45826781 chr11:45826651-45826661 chr11:45826561-45826571 chr11:45826561-45826570 chr11:45826560-45826571 chr11:45826561-45826571 chr11:45826562-45826571
5	POLR2A	chr11:45826325-45826983	HUVEC	blood vessel:	n/a	n/a
6	CTCF	chr11:45826464-45826599	GM12878	blood:	n/a	chr11:45826536-45826554 chr11:45826539-45826552
7	HEY1	chr11:45826294-45826869	K562	blood:	n/a	n/a
8	GABPA	chr11:45826360-45826877	K562	blood:	n/a	n/a
9	MAX	chr11:45825740-45827898	K562	blood:	n/a	chr11:45826643-45826653 chr11:45826646-45826655 chr11:45826644-45826653 chr11:45826644-45826653 chr11:45826757-45826766 chr11:45826644-45826653
10	GTF2F1	chr11:45826343-45826740	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:45825748-45827332	GM18505	blood:	n/a	n/a
12	POLR2A	chr11:45825843-45827779	Raji	blood:	n/a	n/a
13	EBF1	chr11:45826353-45826666	GM12878	blood:	n/a	n/a
14	ZNF263	chr11:45825671-45826665	HEK293-T-REx	kidney:	n/a	chr11:45825774-45825783
15	POLR2A	chr11:45825377-45828009	MCF-7	breast:	n/a	n/a
16	CTCF	chr11:45826391-45826624	GM19239	blood:	n/a	chr11:45826536-45826554 chr11:45826539-45826552
17	CTCF	chr11:45826500-45826650	HFF-Myc	foreskin:	n/a	chr11:45826536-45826554 chr11:45826539-45826552
18	YY1	chr11:45826413-45827050	GM12878	blood:	n/a	chr11:45826567-45826578
19	GABPA	chr11:45826448-45826818	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr11:45825827-45827525	GM12878	blood:	n/a	n/a
21	MAX	chr11:45825657-45827409	Hela-S3	cervix:	n/a	chr11:45826643-45826653 chr11:45826646-45826655 chr11:45826644-45826653 chr11:45825726-45825736 chr11:45826644-45826653 chr11:45826757-45826766 chr11:45826644-45826653
22	POLR2A	chr11:45825514-45827177	HCT-116	colon:	n/a	n/a
23	ZBTB7A	chr11:45826060-45827472	K562	blood:	n/a	n/a
24	JUND	chr11:45826387-45826677	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr11:45826232-45827497	GM12878	blood:	n/a	n/a
26	SRF	chr11:45826544-45826728	HepG2	liver:	n/a	chr11:45826630-45826645 chr11:45826634-45826648
27	MAX	chr11:45826481-45826749	H1-hESC	embryonic stem cell:	n/a	chr11:45826643-45826653 chr11:45826646-45826655 chr11:45826644-45826653 chr11:45826644-45826653 chr11:45826644-45826653
28	USF1	chr11:45826461-45826747	A549	lung:	n/a	chr11:45826642-45826653
29	POLR2A	chr11:45826119-45827435	SK-N-MC	brain:	n/a	n/a
30	CHD2	chr11:45826422-45826622	K562	blood:	n/a	n/a
31	YY1	chr11:45826441-45827347	K562	blood:	n/a	chr11:45827322-45827331 chr11:45826567-45826578
32	ELF1	chr11:45825420-45827007	HCT-116	colon:	n/a	chr11:45826192-45826201 chr11:45825877-45825890 chr11:45826846-45826858 chr11:45826559-45826571 chr11:45826176-45826188
33	CREB1	chr11:45826359-45826898	A549	lung:	n/a	n/a
34	CTCF	chr11:45826500-45826650	GM12869	blood:	n/a	chr11:45826536-45826554 chr11:45826539-45826552
35	POLR2A	chr11:45825333-45827867	HepG2	liver:	n/a	n/a
36	POLR2A	chr11:45826185-45827456	HL-60	blood:	n/a	n/a
37	POLR2A	chr11:45826337-45826868	HepG2	liver:	n/a	n/a
38	TAF1	chr11:45826396-45826818	Hela-S3	cervix:	n/a	n/a
39	BRCA1	chr11:45826390-45826833	Hela-S3	cervix:	n/a	n/a
40	ELK1	chr11:45826457-45826826	GM12878	blood:	n/a	n/a
41	YY1	chr11:45826420-45827043	K562	blood:	n/a	chr11:45826567-45826578
42	CTCF	chr11:45826560-45826710	HMEC	breast:	n/a	n/a
43	E2F6	chr11:45825887-45827982	K562	blood:	n/a	chr11:45825897-45825906
44	JUND	chr11:45826340-45827623	K562	blood:	n/a	chr11:45826679-45826688
45	GTF2F1	chr11:45826388-45826735	K562	blood:	n/a	n/a
46	TAF1	chr11:45826363-45826887	PFSK-1	brain:	n/a	n/a
47	POLR2A	chr11:45826237-45827031	GM12878	blood:	n/a	n/a
48	USF1	chr11:45826294-45826891	ECC-1	luminal epithelium:	n/a	chr11:45826642-45826653
49	TCF3	chr11:45826505-45826871	GM12878	blood:	n/a	n/a
50	BCLAF1	chr11:45826320-45826666	GM12878	blood:	n/a	chr11:45826557-45826570

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:45826537-45826587	A549	lung:	n/a
2	chr11:45826527-45826577	HPAEpiC	pulmonary alveolar:	n/a
3	chr11:45826537-45826587	HL-60	blood:	n/a
4	chr11:45826537-45826587	GM12892	blood:	n/a
5	chr11:45826537-45826587	ECC-1	luminal epithelium:	n/a
6	chr11:45826537-45826587	SK-N-SH	brain:	n/a
7	chr11:45826527-45826577	AoSMC	blood vessel:	n/a
8	chr11:45826527-45826577	GM06990	blood:	n/a
9	chr11:45826527-45826577	HNPCEpiC	eye:	n/a
10	chr11:45826527-45826577	NB4	blood:	n/a
11	chr11:45826537-45826587	SKMC	muscle:	n/a
12	chr11:45826537-45826587	HIPEpiC	eye:	n/a
13	chr11:45826527-45826577	HUVEC	blood vessel:	n/a
14	chr11:45826527-45826577	BJ	skin:	n/a
15	chr11:45826537-45826587	HRCEpiC	kidney:	n/a
16	chr11:45826527-45826577	MCF-7	breast:	n/a
17	chr11:45826537-45826587	HepG2	liver:	n/a
18	chr11:45826537-45826587	RPTEC	kidney:	n/a
19	chr11:45826527-45826577	NT2-D1	testis:	n/a
20	chr11:45826527-45826577	GM12891	blood:	n/a
21	chr11:45826537-45826587	AG10803	skin:	n/a
22	chr11:45826537-45826587	HCT-116	colon:	n/a
23	chr11:45826527-45826577	SK-N-SH	brain:	n/a
24	chr11:45826537-45826587	HEK293	kidney:	embryo
25	chr11:45826537-45826587	HUVEC	blood vessel:	n/a
26	chr11:45826527-45826577	AG04450	lung:	fetal
27	chr11:45826537-45826587	SAEC	small airway:	n/a
28	chr11:45826537-45826587	HEEpiC	esophagus:	n/a
29	chr11:45826537-45826587	MCF10A-Er-Src	breast:	n/a
30	chr11:45826537-45826587	GM06990	blood:	n/a
31	chr11:45826527-45826577	RPTEC	kidney:	n/a
32	chr11:45826527-45826577	HepG2	liver:	n/a
33	chr11:45826527-45826577	AG09319	gingival:	n/a
34	chr11:45826537-45826587	GM12878	blood:	n/a
35	chr11:45826527-45826577	Hela-S3	cervix:	n/a
36	chr11:45826527-45826577	HEEpiC	esophagus:	n/a
37	chr11:45826527-45826577	HL-60	blood:	n/a
38	chr11:45826537-45826587	HMEC	breast:	n/a
39	chr11:45826527-45826577	LNCaP	prostate:	n/a
40	chr11:45826527-45826577	SAEC	small airway:	n/a
41	chr11:45826537-45826587	MCF-7	breast:	n/a
42	chr11:45826527-45826577	GM12892	blood:	n/a
43	chr11:45826527-45826577	NHBE	bronchial:	n/a
44	chr11:45826537-45826587	U87	brain:	n/a
45	chr11:45826537-45826587	HCPEpiC	choroid plexus:	n/a
46	chr11:45826527-45826577	NHDF-neo	bronchial:	n/a
47	chr11:45826537-45826587	NH-A	brain:	n/a
48	chr11:45826537-45826587	HNPCEpiC	eye:	n/a
49	chr11:45826527-45826577	SKMC	muscle:	n/a
50	chr11:45826527-45826577	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:45826321..45826854-chr12:104324067..104324712,2	Hela-S3	cervix:
2	chr11:45824002..45829445-chr11:45867072..45871709,12	MCF-7	breast:
3	chr11:45825804..45827423-chr13:20531319..20533538,2	MCF-7	breast:
4	chr11:45826170..45827093-chr11:45939119..45939790,2	NB4	blood:
5	chr11:45826095..45826729-chr19:13048997..13049830,2	Hela-S3	cervix:
6	chr11:45826004..45826970-chr16:3767028..3767620,2	NB4	blood:
7	chr11:45825935..45826688-chr11:68038905..68039480,2	Hela-S3	cervix:
8	chr11:45825531..45829159-chr11:45866510..45869041,3	K562	blood:
9	chr10:65280654..65281403-chr11:45826054..45827052,3	HCT-116	colon:
10	chr1:54303790..54304293-chr11:45826176..45826827,2	Hela-S3	cervix:
11	chr11:45823557..45830738-chr11:45863397..45877001,19	MCF-7	breast:
12	chr11:45823710..45826999-chr11:86510358..86513611,4	MCF-7	breast:
13	chr1:11969686..11970356-chr11:45825973..45827120,3	Hela-S3	cervix:
14	chr11:45825943..45826929-chr12:123873071..123873715,2	Hela-S3	cervix:
15	chr11:45824638..45826704-chr11:45938955..45940480,2	MCF-7	breast:
16	chr11:45826365..45827084-chr7:108210272..108211105,2	Hela-S3	cervix:
17	chr11:45826438..45827115-chr15:65596884..65597844,3	Hela-S3	cervix:
18	chr11:45825952..45826619-chr16:2255438..2256390,2	Hela-S3	cervix:
19	chr11:45826491..45827349-chr18:33077580..33078338,2	Hela-S3	cervix:
20	chr11:45823993..45827958-chr11:86511064..86514676,4	MCF-7	breast:
21	chr1:147806278..147807229-chr11:45825816..45826645,2	Hela-S3	cervix:

Variant related genes	Relation type
SLC35C1	TF binding region
SLC35C1	CpG island
ENSG00000121671	Chromatin interaction
ENSG00000058804	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000267140	Chromatin interaction
ENSG00000150687	Chromatin interaction
ENSG00000128590	Chromatin interaction
ENSG00000165476	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000171067	Chromatin interaction
ENSG00000121680	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000179218	Chromatin interaction
ENSG00000202408	Chromatin interaction
ENSG00000167965	Chromatin interaction
ENSG00000121741	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000153391	Chromatin interaction
ENSG00000126602	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs61193268	0.86[EUR][1000 genomes]
rs61884469	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61884470	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv897315	chr11:45817637-45838926	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45825200-45827000	Active TSS	Stomach Smooth Muscle	stomach
2	chr11:45825200-45827200	Active TSS	Brain Anterior Caudate	brain
3	chr11:45825200-45827200	Active TSS	Brain Cingulate Gyrus	brain
4	chr11:45825200-45827600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:45825200-45827600	Active TSS	Fetal Kidney	kidney
6	chr11:45825400-45826600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr11:45825400-45826600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:45825400-45826600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:45825400-45826600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:45825400-45827000	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr11:45825400-45827000	Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr11:45825400-45827000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:45825400-45827000	Active TSS	Fetal Brain Female	brain
14	chr11:45825400-45827000	Active TSS	Pancreas	Pancrea
15	chr11:45825400-45827000	Active TSS	Rectal Smooth Muscle	rectum
16	chr11:45825400-45827200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr11:45825400-45827200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:45825400-45827200	Active TSS	Liver	Liver
19	chr11:45825400-45827200	Active TSS	Brain Angular Gyrus	brain
20	chr11:45825400-45827200	Active TSS	Brain Hippocampus Middle	brain
21	chr11:45825400-45827200	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr11:45825400-45827200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:45825400-45827200	Active TSS	Brain Substantia Nigra	brain
24	chr11:45825400-45827200	Active TSS	Colon Smooth Muscle	Colon
25	chr11:45825400-45827200	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr11:45825400-45827200	Active TSS	Esophagus	oesophagus
27	chr11:45825400-45827200	Active TSS	Fetal Lung	lung
28	chr11:45825400-45827200	Active TSS	Lung	lung
29	chr11:45825400-45827200	Active TSS	Right Atrium	heart
30	chr11:45825400-45827200	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr11:45825400-45827200	Active TSS	HSMM	muscle
32	chr11:45825400-45827400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:45825400-45827400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:45825400-45827400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:45825400-45827400	Active TSS	Aorta	Aorta
36	chr11:45825400-45827400	Active TSS	Left Ventricle	heart
37	chr11:45825400-45827400	Active TSS	Ovary	ovary
38	chr11:45825400-45827400	Active TSS	Psoas Muscle	Psoas
39	chr11:45825400-45827400	Active TSS	Small Intestine	intestine
40	chr11:45825400-45827400	Active TSS	HSMMtube	muscle
41	chr11:45825400-45827400	Active TSS	NHLF	lung
42	chr11:45825400-45827600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:45825400-45827600	Bivalent/Poised TSS	HepG2	liver
44	chr11:45825400-45827800	Active TSS	A549	lung
45	chr11:45825400-45828600	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr11:45825600-45826600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr11:45825600-45827000	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr11:45825600-45827000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr11:45825600-45827000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr11:45825600-45827000	Active TSS	Rectal Mucosa Donor 31	rectum

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