Variant report

Variant	rs11032628
Chromosome Location	chr11:34380454-34380455
allele	C/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	POLR2A	chr11:34380396-34380773	MCF-7	breast:	n/a	n/a
2	MAX	chr11:34378502-34381150	Hela-S3	cervix:	n/a	chr11:34379281-34379291 chr11:34380691-34380706
3	EP300	chr11:34380421-34381030	HepG2	liver:	n/a	n/a
4	CTCF	chr11:34380342-34381406	GM12878	blood:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34380591-34380604 chr11:34381197-34381218
5	TBP	chr11:34379375-34380905	HepG2	liver:	n/a	n/a
6	CHD2	chr11:34380410-34381164	GM12878	blood:	n/a	n/a
7	MAX	chr11:34379047-34380875	HepG2	liver:	n/a	chr11:34379281-34379291 chr11:34380691-34380706
8	SIN3AK20	chr11:34380136-34380521	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr11:34379312-34381015	K562	blood:	n/a	chr11:34380691-34380706
10	HEY1	chr11:34380340-34380808	HepG2	liver:	n/a	n/a
11	MAX	chr11:34380185-34381102	MCF-7	breast:	n/a	chr11:34380691-34380706
12	EP300	chr11:34380088-34381029	HepG2	liver:	n/a	n/a
13	MAX	chr11:34380414-34381005	SK-N-SH	brain:	n/a	chr11:34380691-34380706
14	POLR2A	chr11:34378913-34380854	HepG2	liver:	n/a	n/a
15	USF2	chr11:34380204-34380868	Hela-S3	cervix:	n/a	n/a
16	MAFK	chr11:34380092-34381291	Hela-S3	cervix:	n/a	n/a
17	TFAP2C	chr11:34378124-34380976	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr11:34378831-34380846	Hela-S3	cervix:	n/a	n/a
19	RAD21	chr11:34380432-34381413	H1-hESC	embryonic stem cell:	n/a	chr11:34381200-34381219 chr11:34380673-34380685
20	TCF7L2	chr11:34379916-34380620	HEK293	kidney:	n/a	n/a
21	MXI1	chr11:34378457-34381133	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr11:34378523-34380902	Hela-S3	cervix:	n/a	n/a
23	TCF12	chr11:34379084-34381370	A549	lung:	n/a	n/a
24	ZNF263	chr11:34377727-34381033	HEK293-T-REx	kidney:	n/a	chr11:34380107-34380116 chr11:34379476-34379485 chr11:34379232-34379241
25	ZEB1	chr11:34380187-34380719	GM12878	blood:	n/a	n/a
26	SMC3	chr11:34380074-34381362	HepG2	liver:	n/a	n/a
27	RAD21	chr11:34379074-34381631	HCT-116	colon:	n/a	chr11:34379924-34379936 chr11:34380425-34380437 chr11:34379311-34379325 chr11:34381200-34381219 chr11:34379138-34379151 chr11:34380673-34380685
28	MAX	chr11:34378149-34381135	HepG2	liver:	n/a	chr11:34379281-34379291 chr11:34380691-34380706
29	TEAD4	chr11:34380411-34381207	K562	blood:	n/a	n/a
30	MAX	chr11:34380276-34380869	H1-hESC	embryonic stem cell:	n/a	chr11:34380691-34380706
31	TCF7L2	chr11:34379872-34380931	PANC-1	pancreas:	n/a	n/a
32	RAD21	chr11:34379150-34381554	HCT-116	colon:	n/a	chr11:34379924-34379936 chr11:34380425-34380437 chr11:34379311-34379325 chr11:34381200-34381219 chr11:34380673-34380685
33	CHD1	chr11:34380232-34381277	H1-hESC	embryonic stem cell:	n/a	n/a
34	SIN3AK20	chr11:34377833-34381225	MCF-7	breast:	n/a	n/a
35	RAD21	chr11:34380400-34381223	HepG2	liver:	n/a	chr11:34380425-34380437 chr11:34381200-34381219 chr11:34380673-34380685
36	SIN3A	chr11:34377492-34381220	H1-hESC	embryonic stem cell:	n/a	n/a
37	GATA3	chr11:34379088-34381214	A549	lung:	n/a	n/a
38	CTCF	chr11:34380360-34380510	GM12872	blood:	n/a	n/a
39	RAD21	chr11:34380451-34381432	MCF-7	breast:	n/a	chr11:34381200-34381219 chr11:34380673-34380685
40	MAX	chr11:34380291-34381084	ECC-1	luminal epithelium:	n/a	chr11:34380691-34380706
41	MAX	chr11:34378151-34381117	HepG2	liver:	n/a	chr11:34379281-34379291 chr11:34380691-34380706
42	RAD21	chr11:34380428-34381465	ECC-1	luminal epithelium:	n/a	chr11:34381200-34381219 chr11:34380673-34380685
43	SMARCB1	chr11:34378112-34380843	Hela-S3	cervix:	n/a	n/a
44	RCOR1	chr11:34380449-34381164	HepG2	liver:	n/a	n/a
45	POLR2A	chr11:34378781-34381125	SK-N-MC	brain:	n/a	n/a
46	NFIC	chr11:34379929-34380454	HepG2	liver:	n/a	n/a
47	ZNF143	chr11:34378815-34381186	Hela-S3	cervix:	n/a	chr11:34380049-34380067 chr11:34379487-34379497 chr11:34379558-34379568 chr11:34379825-34379843
48	CHD2	chr11:34378353-34381317	Hela-S3	cervix:	n/a	n/a
49	SMC3	chr11:34378437-34381508	Hela-S3	cervix:	n/a	n/a
50	CHD2	chr11:34379472-34380463	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:34009660..34010197-chr11:34380190..34381055,2	MCF-7	breast:
2	chr11:34368701..34370901-chr11:34379752..34381357,2	K562	blood:
3	chr11:34195400..34196504-chr11:34379832..34381736,16	MCF-7	breast:
4	chr11:34071981..34076766-chr11:34377622..34383038,7	MCF-7	breast:
5	chr11:34186902..34187899-chr11:34380166..34381049,3	K562	blood:
6	chr11:34180592..34181222-chr11:34380104..34381010,2	K562	blood:
7	chr11:34126304..34129768-chr11:34376546..34381116,4	MCF-7	breast:
8	chr11:33829494..33830013-chr11:34380233..34381003,2	K562	blood:
9	chr11:34018304..34019124-chr11:34380429..34381489,5	MCF-7	breast:
10	chr11:34380031..34380590-chr5:10353223..10353866,2	Hela-S3	cervix:
11	chr11:34380138..34380872-chr6:26284638..26285343,2	Hela-S3	cervix:
12	chr11:34380153..34381078-chr20:60718993..60719935,2	Hela-S3	cervix:
13	chr11:34380108..34380740-chr17:43662186..43662724,2	Hela-S3	cervix:
14	chr11:34195614..34196183-chr11:34380130..34380656,2	MCF-7	breast:
15	chr11:34194851..34196566-chr11:34380231..34381621,20	MCF-7	breast:
16	chr11:34125543..34130810-chr11:34377372..34382966,13	MCF-7	breast:

Variant related genes	Relation type
ABTB2	TF binding region
ENSG00000135372	Chromatin interaction
ENSG00000135387	Chromatin interaction
ENSG00000259802	Chromatin interaction
ENSG00000145495	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10742313	0.80[EUR][1000 genomes]
rs10742314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10768059	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10768060	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10768061	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10768062	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10768063	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10768064	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10768065	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10768066	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10768067	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10768068	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10768069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836190	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10836191	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10836194	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10836195	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10836196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032621	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11032624	0.88[EUR][1000 genomes]
rs11032625	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11032627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032634	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032635	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032642	0.92[EUR][1000 genomes]
rs11032650	0.83[EUR][1000 genomes]
rs12296013	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12787642	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1810506	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1810507	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1883736	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1925368	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925371	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1925372	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1925374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1977109	0.80[EUR][1000 genomes]
rs2001176	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2092485	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3740795	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3740796	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3817990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3981191	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3981192	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4140544	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4993520	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6484710	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6484711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7110380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742634	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7927418	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7927718	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs910088	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9651597	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv897210	chr11:34349427-34381075	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34376400-34381200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:34377400-34381000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr11:34377400-34381000	Active TSS	Left Ventricle	heart
4	chr11:34377600-34381000	Active TSS	Aorta	Aorta
5	chr11:34377600-34381200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr11:34378000-34381000	Active TSS	Right Atrium	heart
7	chr11:34378000-34381200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr11:34378000-34381200	Active TSS	A549	lung
9	chr11:34378200-34380800	Bivalent/Poised TSS	HepG2	liver
10	chr11:34378200-34381000	Active TSS	Rectal Smooth Muscle	rectum
11	chr11:34378200-34381200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr11:34378200-34381200	Active TSS	Colon Smooth Muscle	Colon
13	chr11:34378200-34381200	Active TSS	Fetal Kidney	kidney
14	chr11:34378400-34380600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr11:34378400-34380800	Active TSS	Small Intestine	intestine
16	chr11:34378400-34381200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:34378600-34381000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr11:34378600-34381000	Active TSS	Brain Angular Gyrus	brain
19	chr11:34378600-34381000	Active TSS	Ovary	ovary
20	chr11:34378600-34381000	Active TSS	Psoas Muscle	Psoas
21	chr11:34378600-34381200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr11:34378600-34381200	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr11:34378600-34381200	Active TSS	Stomach Mucosa	stomach
24	chr11:34378800-34381200	Active TSS	Brain Anterior Caudate	brain
25	chr11:34379000-34381000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr11:34379000-34381000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:34379000-34381000	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr11:34379000-34381000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:34379000-34381200	Active TSS	Thymus	Thymus
30	chr11:34379200-34381000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:34379200-34381000	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr11:34379200-34381200	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr11:34379200-34381400	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr11:34379400-34381000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:34379800-34380800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr11:34379800-34380800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:34379800-34380800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr11:34379800-34381000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr11:34379800-34381000	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr11:34379800-34381000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr11:34379800-34381000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr11:34379800-34381200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr11:34379800-34381400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr11:34379800-34381400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:34379800-34381400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:34380000-34380600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:34380000-34380600	Flanking Active TSS	Hela-S3	cervix
48	chr11:34380000-34380600	Flanking Active TSS	NHDF-Ad	bronchial
49	chr11:34380000-34380800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:34380000-34380800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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