Variant report

Variant	rs10751215
Chromosome Location	chr11:72526087-72526088
allele	C/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	JUND	chr11:72526039-72526126	K562	blood:	n/a	n/a
2	POLR2A	chr11:72523148-72527053	IMR90	lung:	n/a	n/a
3	CTCF	chr11:72526020-72526170	AG10803	skin:	n/a	n/a
4	POLR2A	chr11:72523665-72527030	GM12891	blood:	n/a	n/a
5	E2F4	chr11:72525007-72526202	MCF10A-Er-Src	breast:	n/a	chr11:72525472-72525483 chr11:72525451-72525462 chr11:72525349-72525357 chr11:72525349-72525357 chr11:72525348-72525358 chr11:72525393-72525402 chr11:72525350-72525357 chr11:72525159-72525168 chr11:72525384-72525394 chr11:72525383-72525392
6	TAF1	chr11:72525897-72526154	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr11:72523591-72526356	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:72523701-72527157	HL-60	blood:	n/a	n/a
9	RELA	chr11:72523793-72527038	GM12891	blood:	n/a	n/a
10	POLR2A	chr11:72524710-72526238	HEK293	kidney:	n/a	n/a
11	SMC3	chr11:72523879-72526251	Hela-S3	cervix:	n/a	chr11:72525805-72525813 chr11:72525802-72525812 chr11:72525395-72525409 chr11:72525395-72525405
12	CTCF	chr11:72525960-72526110	GM12874	blood:	n/a	n/a
13	CTCF	chr11:72526000-72526150	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr11:72526020-72526170	GM12873	blood:	n/a	n/a
15	CTCF	chr11:72526000-72526150	SK-N-SH_RA	brain:	n/a	n/a
16	ELK1	chr11:72525914-72526100	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:72525298-72526170	A549	lung:	n/a	n/a
18	CTCF	chr11:72525980-72526130	HMF	breast:	n/a	n/a
19	CTCF	chr11:72526000-72526150	MCF-7	breast:	n/a	n/a
20	MAX	chr11:72523973-72526390	K562	blood:	n/a	chr11:72525182-72525191
21	CTCF	chr11:72526020-72526170	GM12872	blood:	n/a	n/a
22	CTCF	chr11:72525980-72526130	HPF	lung:	n/a	n/a
23	TAF1	chr11:72524812-72526245	Hela-S3	cervix:	n/a	n/a
24	CREB1	chr11:72524952-72526226	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr11:72523927-72526134	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr11:72525960-72526110	AoAF	blood vessel:	n/a	n/a
27	CHD2	chr11:72525346-72526346	K562	blood:	n/a	chr11:72525660-72525670
28	EP300	chr11:72524950-72526274	GM12878	blood:	n/a	chr11:72525057-72525073 chr11:72525389-72525398
29	CTCF	chr11:72526020-72526170	Hela-S3	cervix:	n/a	n/a
30	MAZ	chr11:72523987-72526256	GM12878	blood:	n/a	chr11:72525182-72525191
31	CTCF	chr11:72526000-72526150	GM12871	blood:	n/a	n/a
32	CHD1	chr11:72523589-72526562	IMR90	lung:	n/a	chr11:72525660-72525670
33	YY1	chr11:72523875-72526259	GM12878	blood:	n/a	chr11:72525383-72525392 chr11:72525383-72525394 chr11:72525061-72525075 chr11:72525387-72525401 chr11:72525624-72525643 chr11:72525386-72525395
34	NFIC	chr11:72525716-72526147	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:72525530-72527128	K562	blood:	n/a	n/a
36	CHD2	chr11:72523855-72526308	Hela-S3	cervix:	n/a	chr11:72525660-72525670
37	CTCF	chr11:72526080-72526230	HA-sp	spinal cord:	n/a	n/a
38	CTCF	chr11:72525960-72526110	HepG2	liver:	n/a	n/a
39	SMARCC1	chr11:72525460-72526333	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr11:72526040-72526190	Caco-2	colon:	n/a	n/a
41	RAD21	chr11:72525985-72526167	Hela-S3	cervix:	n/a	n/a
42	RUNX3	chr11:72523901-72526528	GM12878	blood:	n/a	n/a
43	MXI1	chr11:72523716-72526356	Hela-S3	cervix:	n/a	n/a
44	SP1	chr11:72524964-72526268	H1-hESC	embryonic stem cell:	n/a	chr11:72525758-72525770 chr11:72525426-72525435 chr11:72525758-72525770 chr11:72525157-72525169 chr11:72525157-72525169 chr11:72525426-72525435 chr11:72525391-72525403 chr11:72525393-72525402 chr11:72525159-72525168 chr11:72525425-72525437 chr11:72525425-72525437 chr11:72525391-72525403 chr11:72525158-72525167 chr11:72525427-72525436
45	CTCF	chr11:72525964-72526174	MCF-7	breast:	n/a	n/a
46	POLR2A	chr11:72523753-72526402	GM12891	blood:	n/a	n/a
47	CTCF	chr11:72526020-72526170	GM12870	blood:	n/a	n/a
48	YY1	chr11:72524769-72526220	HepG2	liver:	n/a	chr11:72525383-72525392 chr11:72525383-72525394 chr11:72525061-72525075 chr11:72525387-72525401 chr11:72525624-72525643 chr11:72525386-72525395
49	TAL1	chr11:72526077-72526519	K562	blood:	n/a	n/a
50	CTCF	chr11:72526040-72526190	HCFaa	heart:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72434436..72438940-chr11:72523674..72527576,8	MCF-7	breast:
2	chr11:72503176..72507418-chr11:72523751..72527635,5	MCF-7	breast:
3	chr11:72525449..72526305-chr5:10563738..10564690,2	NB4	blood:
4	chr11:72490395..72495168-chr11:72521187..72527739,13	MCF-7	breast:
5	chr11:72525497..72526111-chr9:98273232..98274211,2	Hela-S3	cervix:
6	chr11:72469058..72470946-chr11:72524668..72526420,2	MCF-7	breast:
7	chr11:72495938..72498335-chr11:72525039..72527037,2	MCF-7	breast:
8	chr11:72524343..72526457-chr11:76493236..76495527,2	MCF-7	breast:
9	chr1:156720509..156721290-chr11:72525128..72526108,2	Hela-S3	cervix:
10	chr11:72431679..72434346-chr11:72525248..72526787,2	MCF-7	breast:
11	chr11:72502078..72507217-chr11:72523813..72527208,9	K562	blood:
12	chr11:72526024..72528010-chr11:72853024..72854605,2	MCF-7	breast:
13	chr11:72435321..72438688-chr11:72524163..72527282,5	K562	blood:
14	chr11:72487526..72509577-chr11:72522325..72536312,93	MCF-7	breast:
15	chr11:72460411..72465058-chr11:72522153..72526935,8	MCF-7	breast:
16	chr11:72461703..72464740-chr11:72523811..72527033,4	K562	blood:
17	chr11:72502776..72504800-chr11:72523813..72526790,2	K562	blood:
18	chr11:72431813..72433546-chr11:72525134..72527410,2	MCF-7	breast:
19	chr1:144533506..144534133-chr11:72524969..72526154,3	Hela-S3	cervix:
20	chr11:72525622..72526434-chr17:8059039..8059628,2	Hela-S3	cervix:
21	chr11:72525347..72527277-chr11:72852520..72855217,2	MCF-7	breast:
22	chr11:72525940..72528822-chr11:72928585..72931110,3	MCF-7	breast:
23	chr11:72525648..72526515-chr11:72888816..72889343,2	MCF-7	breast:

Variant related genes	Relation type
ATG16L2	TF binding region
ENSG00000164236	Chromatin interaction
ENSG00000255100	Chromatin interaction
ENSG00000214530	Chromatin interaction
ENSG00000182704	Chromatin interaction
ENSG00000186635	Chromatin interaction
ENSG00000143321	Chromatin interaction
ENSG00000265064	Chromatin interaction
ENSG00000175591	Chromatin interaction
ENSG00000137478	Chromatin interaction
ENSG00000201699	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1000620	0.95[CEU][hapmap];0.81[JPT][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10431171	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10431172	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10431174	0.86[AMR][1000 genomes]
rs10751213	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10751216	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10898877	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10898879	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10898880	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10898881	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11235592	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11235594	0.95[CEU][hapmap];0.81[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11235596	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1864653	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1975109	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35343925	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35668754	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35752694	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4459331	0.91[CEU][hapmap];0.81[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4459332	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs485099	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4944796	0.95[CEU][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4944797	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4944800	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4944802	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4944805	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6592486	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6592489	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6592490	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs677231	0.96[CEU][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7110719	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7952617	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][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	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 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	chr11:72523200-72527200	Active TSS	Primary monocytes fromperipheralblood	blood
2	chr11:72523600-72526400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:72523600-72526800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr11:72523600-72527000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:72523800-72526200	Active TSS	Aorta	Aorta
6	chr11:72524200-72526400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:72524200-72526600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:72524200-72526800	Active TSS	Small Intestine	intestine
9	chr11:72524400-72526200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr11:72524400-72526200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:72524400-72526400	Active TSS	Fetal Kidney	kidney
12	chr11:72524400-72526400	Active TSS	Ovary	ovary
13	chr11:72524400-72526600	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr11:72524400-72527200	Active TSS	GM12878-XiMat	blood
15	chr11:72524600-72526200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:72524600-72526200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:72524600-72526200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:72524600-72526200	Active TSS	Brain Anterior Caudate	brain
19	chr11:72524600-72526200	Active TSS	Colon Smooth Muscle	Colon
20	chr11:72524600-72526200	Active TSS	Left Ventricle	heart
21	chr11:72524600-72526200	Active TSS	NHDF-Ad	bronchial
22	chr11:72524600-72526400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:72524600-72526400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:72524600-72526600	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr11:72524600-72526600	Active TSS	Psoas Muscle	Psoas
26	chr11:72524600-72526800	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr11:72524600-72527200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:72524600-72527200	Active TSS	Monocytes-CD14+_RO01746	blood
29	chr11:72524800-72526200	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr11:72524800-72526200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
31	chr11:72524800-72526200	Active TSS	Brain Substantia Nigra	brain
32	chr11:72524800-72526400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:72524800-72526400	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr11:72524800-72526400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:72524800-72526400	Active TSS	Gastric	stomach
36	chr11:72524800-72526400	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr11:72524800-72526600	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr11:72524800-72526600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr11:72524800-72526800	Active TSS	Lung	lung
40	chr11:72524800-72527000	Active TSS	Right Atrium	heart
41	chr11:72524800-72527400	Active TSS	Primary T cells from cord blood	blood
42	chr11:72525000-72526200	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr11:72525000-72526200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:72525000-72526200	Active TSS	Fetal Intestine Large	intestine
45	chr11:72525000-72526400	Active TSS	Spleen	Spleen
46	chr11:72525000-72526600	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr11:72525000-72527600	Active TSS	Rectal Smooth Muscle	rectum
48	chr11:72525200-72526200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr11:72525200-72526200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr11:72525600-72526200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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