Variant report

Variant	rs61886103
Chromosome Location	chr11:63606309-63606310
allele	G/T
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	EGR1	chr11:63606129-63606478	K562	blood:	n/a	chr11:63606236-63606251 chr11:63606238-63606252 chr11:63606354-63606363 chr11:63606351-63606364 chr11:63606308-63606322 chr11:63606356-63606366
2	YY1	chr11:63606302-63607055	SK-N-SH	brain:	n/a	chr11:63606592-63606602 chr11:63606686-63606700 chr11:63606356-63606365 chr11:63606590-63606609 chr11:63606592-63606614 chr11:63606595-63606603
3	RELA	chr11:63605889-63607428	GM15510	blood:	n/a	n/a
4	MAX	chr11:63605826-63607240	MCF-7	breast:	n/a	chr11:63606236-63606246 chr11:63606350-63606360
5	POLR2A	chr11:63605896-63607521	GM15510	blood:	n/a	n/a
6	RUNX3	chr11:63605971-63606705	GM12878	blood:	n/a	n/a
7	MYC	chr11:63605892-63607581	NB4	blood:	n/a	chr11:63606236-63606246 chr11:63606350-63606360
8	MAX	chr11:63606071-63607352	K562	blood:	n/a	chr11:63606236-63606246 chr11:63606350-63606360
9	ELF1	chr11:63605841-63606698	K562	blood:	n/a	chr11:63606279-63606292
10	MAZ	chr11:63606165-63606696	HepG2	liver:	n/a	chr11:63606236-63606246 chr11:63606350-63606360
11	MAX	chr11:63606017-63606576	MCF-7	breast:	n/a	chr11:63606236-63606246 chr11:63606350-63606360
12	CHD2	chr11:63605823-63606752	GM12878	blood:	n/a	n/a
13	FOXA1	chr11:63606151-63606610	HepG2	liver:	n/a	n/a
14	MAX	chr11:63605965-63606348	A549	lung:	n/a	chr11:63606236-63606246
15	MAZ	chr11:63605752-63607126	Hela-S3	cervix:	n/a	chr11:63606236-63606246 chr11:63606350-63606360
16	MAZ	chr11:63605643-63608344	IMR90	lung:	n/a	chr11:63606236-63606246 chr11:63606350-63606360
17	EGR1	chr11:63606196-63606418	GM12878	blood:	n/a	chr11:63606236-63606251 chr11:63606238-63606252 chr11:63606354-63606363 chr11:63606351-63606364 chr11:63606308-63606322 chr11:63606356-63606366
18	ZKSCAN1	chr11:63605834-63606751	Hela-S3	cervix:	n/a	n/a
19	EGR1	chr11:63606020-63606791	MCF-7	breast:	n/a	chr11:63606236-63606251 chr11:63606238-63606252 chr11:63606354-63606363 chr11:63606351-63606364 chr11:63606308-63606322 chr11:63606356-63606366
20	SRF	chr11:63606034-63606707	ECC-1	luminal epithelium:	n/a	n/a
21	REST	chr11:63606116-63608089	H1-neurons	neurons:	n/a	chr11:63607395-63607405 chr11:63606233-63606246
22	SMARCB1	chr11:63606236-63607569	Hela-S3	cervix:	n/a	n/a
23	MYC	chr11:63605948-63606958	MCF10A-Er-Src	breast:	n/a	chr11:63606236-63606246 chr11:63606350-63606360
24	EGR1	chr11:63605789-63606743	HCT-116	colon:	n/a	chr11:63606236-63606251 chr11:63606238-63606252 chr11:63606354-63606363 chr11:63606351-63606364 chr11:63606308-63606322 chr11:63606356-63606366
25	YY1	chr11:63606198-63607097	NT2-D1	testis:	n/a	chr11:63606592-63606602 chr11:63606686-63606700 chr11:63606356-63606365 chr11:63606590-63606609 chr11:63606592-63606614 chr11:63606595-63606603
26	ELF1	chr11:63605939-63606650	SK-N-SH	brain:	n/a	chr11:63606279-63606292
27	MAX	chr11:63606010-63606370	K562	blood:	n/a	chr11:63606236-63606246 chr11:63606350-63606360
28	GABPA	chr11:63606034-63606819	K562	blood:	n/a	chr11:63606356-63606365 chr11:63606312-63606321
29	MXI1	chr11:63605477-63608478	GM12878	blood:	n/a	n/a
30	YY1	chr11:63606110-63607423	GM12878	blood:	n/a	chr11:63606592-63606602 chr11:63606686-63606700 chr11:63606356-63606365 chr11:63606590-63606609 chr11:63606592-63606614 chr11:63606595-63606603
31	MXI1	chr11:63605527-63608524	IMR90	lung:	n/a	n/a
32	HMGN3	chr11:63605707-63607292	K562	blood:	n/a	n/a
33	MXI1	chr11:63605638-63609646	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr11:63605953-63606963	HUVEC	blood vessel:	n/a	n/a
35	FOXP2	chr11:63606068-63606683	SK-N-MC	brain:	n/a	n/a
36	FOXA1	chr11:63606155-63606628	HepG2	liver:	n/a	n/a
37	PML	chr11:63605706-63607888	GM12878	blood:	n/a	n/a
38	MAFK	chr11:63605817-63606541	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr11:63606069-63606612	Hela-S3	cervix:	n/a	n/a
40	ELK1	chr11:63605859-63606393	K562	blood:	n/a	n/a
41	YY1	chr11:63606237-63607224	H1-hESC	embryonic stem cell:	n/a	chr11:63606592-63606602 chr11:63606686-63606700 chr11:63606356-63606365 chr11:63606590-63606609 chr11:63606592-63606614 chr11:63606595-63606603
42	MAX	chr11:63605971-63606823	SK-N-SH	brain:	n/a	chr11:63606236-63606246 chr11:63606350-63606360
43	POLR2A	chr11:63606252-63606975	A549	lung:	n/a	n/a
44	RFX5	chr11:63606094-63606589	HepG2	liver:	n/a	n/a
45	EGR1	chr11:63606155-63606410	GM12878	blood:	n/a	chr11:63606236-63606251 chr11:63606238-63606252 chr11:63606354-63606363 chr11:63606351-63606364 chr11:63606308-63606322 chr11:63606356-63606366
46	POLR2A	chr11:63606300-63607544	SK-N-MC	brain:	n/a	n/a
47	POLR2A	chr11:63605851-63607537	GM18951	blood:	n/a	n/a
48	RUNX3	chr11:63606293-63606885	GM12878	blood:	n/a	n/a
49	STAT3	chr11:63606137-63606337	MCF10A-Er-Src	breast:	n/a	chr11:63606276-63606296 chr11:63606193-63606213 chr11:63606277-63606297
50	POLR2A	chr11:63606302-63606835	PFSK-1	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:63606263-63606313	HEK293	kidney:	embryo
2	chr11:63606286-63606336	AG09319	gingival:	n/a
3	chr11:63606286-63606336	HPAEpiC	pulmonary alveolar:	n/a
4	chr11:63606263-63606313	AG04450	lung:	fetal
5	chr11:63606263-63606313	GM12892	blood:	n/a
6	chr11:63606263-63606313	HL-60	blood:	n/a
7	chr11:63606263-63606313	Hela-S3	cervix:	n/a
8	chr11:63606263-63606313	HEEpiC	esophagus:	n/a
9	chr11:63606263-63606313	HMEC	breast:	n/a
10	chr11:63606263-63606313	SK-N-MC	brain:	n/a
11	chr11:63606263-63606313	H1-hESC	embryonic stem cell:	embryo
12	chr11:63606263-63606313	RPTEC	kidney:	n/a
13	chr11:63606263-63606313	HCT-116	colon:	n/a
14	chr11:63606286-63606336	HAEpiC	amniotic membrane:	n/a
15	chr11:63606263-63606313	IMR90	lung:	fetal
16	chr11:63606263-63606313	U87	brain:	n/a
17	chr11:63606263-63606313	PANC-1	pancreas:	n/a
18	chr11:63606286-63606336	NT2-D1	testis:	n/a
19	chr11:63606286-63606336	AG10803	skin:	n/a
20	chr11:63606263-63606313	GM06990	blood:	n/a
21	chr11:63606263-63606313	MCF-7	breast:	n/a
22	chr11:63606286-63606336	HRPEpiC	eye:	n/a
23	chr11:63606286-63606336	HCPEpiC	choroid plexus:	n/a
24	chr11:63606286-63606336	NHBE	bronchial:	n/a
25	chr11:63606286-63606336	IMR90	lung:	fetal
26	chr11:63606286-63606336	HIPEpiC	eye:	n/a
27	chr11:63606286-63606336	HepG2	liver:	n/a
28	chr11:63606286-63606336	HMEC	breast:	n/a
29	chr11:63606263-63606313	PFSK-1	brain:	n/a
30	chr11:63606263-63606313	SK-N-SH	brain:	n/a
31	chr11:63606263-63606313	HRCEpiC	kidney:	n/a
32	chr11:63606286-63606336	BJ	skin:	n/a
33	chr11:63606286-63606336	Hepatocyte	liver:	n/a
34	chr11:63606286-63606336	MCF-7	breast:	n/a
35	chr11:63606263-63606313	ovcar-3	ovarian:	n/a
36	chr11:63606263-63606313	NHBE	bronchial:	n/a
37	chr11:63606263-63606313	ProgFib	skin:	n/a
38	chr11:63606263-63606313	NT2-D1	testis:	n/a
39	chr11:63606286-63606336	GM12892	blood:	n/a
40	chr11:63606263-63606313	AG09309	skin:	n/a
41	chr11:63606263-63606313	NH-A	brain:	n/a
42	chr11:63606286-63606336	SK-N-MC	brain:	n/a
43	chr11:63606286-63606336	T-47D	breast:	n/a
44	chr11:63606263-63606313	AG10803	skin:	n/a
45	chr11:63606263-63606313	HCPEpiC	choroid plexus:	n/a
46	chr11:63606286-63606336	PANC-1	pancreas:	n/a
47	chr11:63606286-63606336	GM19239	blood:	n/a
48	chr11:63606286-63606336	PFSK-1	brain:	n/a
49	chr11:63606286-63606336	K562	blood:	n/a
50	chr11:63606263-63606313	MCF10A-Er-Src	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63534532..63537273-chr11:63602993..63606665,6	K562	blood:
2	chr11:63605709..63607776-chr11:63741979..63743642,3	K562	blood:
3	chr11:63604982..63606649-chr11:63633551..63637040,3	K562	blood:
4	chr11:63535469..63537285-chr11:63604590..63607809,3	MCF-7	breast:
5	chr11:63535254..63537273-chr11:63604196..63606665,2	K562	blood:
6	chr11:63597538..63602989-chr11:63603448..63608044,6	K562	blood:
7	chr11:63605131..63609420-chr11:63682910..63687369,4	MCF-7	breast:
8	chr11:63604963..63609785-chr11:63634052..63642181,26	MCF-7	breast:
9	chr11:63603311..63612666-chr11:63664740..63679491,25	MCF-7	breast:
10	chr11:63605255..63608067-chr11:63752037..63753673,2	MCF-7	breast:
11	chr11:63604824..63606885-chr11:63683071..63686195,3	K562	blood:
12	chr11:63605595..63608737-chr11:63952425..63954944,4	MCF-7	breast:
13	chr11:63606304..63609239-chr11:63647374..63650317,2	MCF-7	breast:
14	chr11:63606175..63608969-chr11:63932687..63934753,2	MCF-7	breast:
15	chr11:63579552..63584409-chr11:63604789..63609677,6	K562	blood:
16	chr11:63605631..63608231-chr11:63683000..63685015,3	MCF-7	breast:
17	chr11:63603344..63615182-chr11:63634321..63647771,46	MCF-7	breast:
18	chr11:63604248..63606622-chr11:63634947..63637040,3	K562	blood:
19	chr11:63605094..63609854-chr11:63611414..63617957,11	K562	blood:
20	chr11:63579552..63583589-chr11:63604564..63608557,6	K562	blood:
21	chr11:63536047..63538392-chr11:63603133..63607498,3	MCF-7	breast:

Variant related genes	Relation type
MARK2	TF binding region
ENSG00000256280	TF binding region
MARK2	CpG island
ENSG00000256280	CpG island
ENSG00000168439	Chromatin interaction
ENSG00000255651	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000202089	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000176340	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000256100	Chromatin interaction
ENSG00000256280	Chromatin interaction
ENSG00000168005	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10897457	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231605	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231615	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231619	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231620	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231621	0.81[EUR][1000 genomes]
rs11231630	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231631	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850942	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886104	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886106	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886131	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886132	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886133	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61886134	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933791	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949291	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952270	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs958333	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9735314	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 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	chr11:63593000-63606400	Weak transcription	Aorta	Aorta
2	chr11:63594600-63606400	Weak transcription	Ovary	ovary
3	chr11:63605600-63606600	Active TSS	Right Atrium	heart
4	chr11:63605800-63606400	Weak transcription	Esophagus	oesophagus
5	chr11:63605800-63606400	Weak transcription	Gastric	stomach
6	chr11:63605800-63606400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:63605800-63606400	Weak transcription	Small Intestine	intestine
8	chr11:63605800-63606600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:63605800-63608400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:63605800-63608600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr11:63606000-63606400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:63606000-63606600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr11:63606000-63606600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:63606000-63606800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:63606000-63606800	Active TSS	HepG2	liver
16	chr11:63606000-63607000	Active TSS	Primary hematopoietic stem cells	blood
17	chr11:63606000-63607000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr11:63606000-63607000	Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr11:63606000-63607000	Active TSS	Brain Germinal Matrix	brain
20	chr11:63606000-63607200	Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr11:63606000-63607200	Active TSS	Liver	Liver
22	chr11:63606000-63607200	Active TSS	Fetal Muscle Trunk	muscle
23	chr11:63606000-63607200	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr11:63606000-63607400	Active TSS	Primary B cells from peripheral blood	blood
25	chr11:63606000-63607400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:63606000-63607400	Active TSS	Brain Angular Gyrus	brain
27	chr11:63606000-63607400	Active TSS	Brain Hippocampus Middle	brain
28	chr11:63606000-63607400	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr11:63606000-63607400	Active TSS	Brain Substantia Nigra	brain
30	chr11:63606000-63607400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr11:63606000-63607400	Active TSS	Fetal Brain Female	brain
32	chr11:63606000-63607400	Active TSS	Fetal Lung	lung
33	chr11:63606000-63607400	Active TSS	Psoas Muscle	Psoas
34	chr11:63606000-63607400	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr11:63606000-63607400	Active TSS	Rectal Smooth Muscle	rectum
36	chr11:63606000-63607400	Active TSS	HSMMtube	muscle
37	chr11:63606000-63607400	Active TSS	K562	blood
38	chr11:63606000-63607400	Active TSS	NHEK	skin
39	chr11:63606000-63607600	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr11:63606000-63607600	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr11:63606000-63607600	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr11:63606000-63607600	Active TSS	Primary T cells fromperipheralblood	blood
43	chr11:63606000-63607600	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr11:63606000-63607600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr11:63606000-63607600	Active TSS	Muscle Satellite Cultured Cells	--
46	chr11:63606000-63607600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:63606000-63607600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:63606000-63607600	Active TSS	Brain Anterior Caudate	brain
49	chr11:63606000-63607600	Active TSS	Brain Cingulate Gyrus	brain
50	chr11:63606000-63607600	Active TSS	Colonic Mucosa	Colon

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