Variant report

Variant	rs2611134
Chromosome Location	chr11:34380706-34380707
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	CTCF	chr11:34380631-34380817	H1-hESC	embryonic stem cell:	n/a	chr11:34380718-34380731
2	POLR2A	chr11:34380531-34380783	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:34380396-34380773	MCF-7	breast:	n/a	n/a
4	MAX	chr11:34378502-34381150	Hela-S3	cervix:	n/a	chr11:34379281-34379291 chr11:34380691-34380706
5	RAD21	chr11:34380685-34381272	K562	blood:	n/a	chr11:34381200-34381219
6	CTCF	chr11:34380461-34381341	K562	blood:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34380591-34380604 chr11:34381197-34381218
7	CBX3	chr11:34380473-34381189	K562	blood:	n/a	n/a
8	EP300	chr11:34380421-34381030	HepG2	liver:	n/a	n/a
9	CTCF	chr11:34380342-34381406	GM12878	blood:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34380591-34380604 chr11:34381197-34381218
10	TBP	chr11:34379375-34380905	HepG2	liver:	n/a	n/a
11	CTCF	chr11:34380628-34381307	GM12878	blood:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34381197-34381218
12	CTCF	chr11:34380565-34380839	Fibrobl	skin:	n/a	chr11:34380718-34380731 chr11:34380591-34380604
13	CEBPB	chr11:34380574-34381232	Hela-S3	cervix:	n/a	chr11:34381153-34381166 chr11:34380965-34380978
14	POLR2A	chr11:34380532-34380806	HepG2	liver:	n/a	n/a
15	CTCF	chr11:34380594-34381371	T-47D	breast:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34381197-34381218
16	CTCF	chr11:34380531-34381402	A549	lung:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34380591-34380604 chr11:34381197-34381218
17	CTCF	chr11:34380524-34381434	A549	lung:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34380591-34380604 chr11:34381197-34381218
18	RAD21	chr11:34380463-34381483	MCF-7	breast:	n/a	chr11:34381200-34381219 chr11:34380673-34380685
19	CHD2	chr11:34380410-34381164	GM12878	blood:	n/a	n/a
20	HDAC2	chr11:34380505-34380869	K562	blood:	n/a	n/a
21	MAX	chr11:34379047-34380875	HepG2	liver:	n/a	chr11:34379281-34379291 chr11:34380691-34380706
22	MAX	chr11:34380459-34381082	GM12878	blood:	n/a	chr11:34380691-34380706
23	MAX	chr11:34379312-34381015	K562	blood:	n/a	chr11:34380691-34380706
24	HEY1	chr11:34380340-34380808	HepG2	liver:	n/a	n/a
25	MAX	chr11:34380185-34381102	MCF-7	breast:	n/a	chr11:34380691-34380706
26	CEBPB	chr11:34380668-34380995	HepG2	liver:	n/a	chr11:34380965-34380978
27	EP300	chr11:34380088-34381029	HepG2	liver:	n/a	n/a
28	MAX	chr11:34380414-34381005	SK-N-SH	brain:	n/a	chr11:34380691-34380706
29	CTCF	chr11:34380669-34381307	GM13977	blood:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34381197-34381218
30	SIN3AK20	chr11:34380636-34380947	PFSK-1	brain:	n/a	n/a
31	CTCF	chr11:34380563-34380847	MCF-7	breast:	n/a	chr11:34380718-34380731 chr11:34380591-34380604
32	CTCF	chr11:34380646-34380836	LNCaP	prostate:	n/a	chr11:34380718-34380731
33	CTCF	chr11:34380660-34380810	HRPEpiC	eye:	n/a	chr11:34380718-34380731
34	FOXM1	chr11:34380655-34381269	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:34378913-34380854	HepG2	liver:	n/a	n/a
36	USF2	chr11:34380204-34380868	Hela-S3	cervix:	n/a	n/a
37	NRF1	chr11:34380584-34380973	GM12878	blood:	n/a	chr11:34380697-34380706
38	MAFK	chr11:34380092-34381291	Hela-S3	cervix:	n/a	n/a
39	TFAP2C	chr11:34378124-34380976	Hela-S3	cervix:	n/a	n/a
40	JUND	chr11:34380706-34381357	H1-hESC	embryonic stem cell:	n/a	chr11:34381227-34381236
41	CTCF	chr11:34380640-34380790	WERI-Rb-1	eye:	n/a	chr11:34380718-34380731
42	POLR2A	chr11:34378831-34380846	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr11:34380647-34381324	Pancreas_OC	pancreas:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34381197-34381218
44	RAD21	chr11:34380432-34381413	H1-hESC	embryonic stem cell:	n/a	chr11:34381200-34381219 chr11:34380673-34380685
45	MAZ	chr11:34380567-34381170	GM12878	blood:	n/a	chr11:34380691-34380706
46	MXI1	chr11:34378457-34381133	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr11:34380627-34381373	Spleen_OC	spleen:	n/a	chr11:34380718-34380731 chr11:34381202-34381220 chr11:34381197-34381218
48	POLR2A	chr11:34378523-34380902	Hela-S3	cervix:	n/a	n/a
49	TCF12	chr11:34379084-34381370	A549	lung:	n/a	n/a
50	ZNF263	chr11:34377727-34381033	HEK293-T-REx	kidney:	n/a	chr11:34380107-34380116 chr11:34379476-34379485 chr11:34379232-34379241

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:34380695-34380745	PrEC	prostate:	n/a
2	chr11:34380695-34380745	Caco-2	colon:	n/a
3	chr11:34380695-34380745	HPAEpiC	pulmonary alveolar:	n/a
4	chr11:34380695-34380745	HEEpiC	esophagus:	n/a
5	chr11:34380695-34380745	GM06990	blood:	n/a
6	chr11:34380695-34380745	PFSK-1	brain:	n/a
7	chr11:34380695-34380745	HRE	kidney:	n/a
8	chr11:34380695-34380745	SKMC	muscle:	n/a
9	chr11:34380695-34380745	K562	blood:	n/a
10	chr11:34380695-34380745	NHBE	bronchial:	n/a
11	chr11:34380695-34380745	PANC-1	pancreas:	n/a
12	chr11:34380695-34380745	HCM	heart:	n/a
13	chr11:34380695-34380745	T-47D	breast:	n/a
14	chr11:34380695-34380745	HCF	heart:	n/a
15	chr11:34380695-34380745	HRPEpiC	eye:	n/a
16	chr11:34380695-34380745	NB4	blood:	n/a
17	chr11:34380695-34380745	RPTEC	kidney:	n/a
18	chr11:34380695-34380745	NH-A	brain:	n/a
19	chr11:34380695-34380745	HEK293	kidney:	embryo
20	chr11:34380695-34380745	HRCEpiC	kidney:	n/a
21	chr11:34380695-34380745	LNCaP	prostate:	n/a
22	chr11:34380695-34380745	HCPEpiC	choroid plexus:	n/a
23	chr11:34380695-34380745	NT2-D1	testis:	n/a
24	chr11:34380695-34380745	CMK	blood:	n/a
25	chr11:34380695-34380745	MCF-7	breast:	n/a
26	chr11:34380695-34380745	SK-N-MC	brain:	n/a
27	chr11:34380695-34380745	BJ	skin:	n/a
28	chr11:34380695-34380745	HIPEpiC	eye:	n/a
29	chr11:34380695-34380745	AoSMC	blood vessel:	n/a
30	chr11:34380695-34380745	AG09319	gingival:	n/a
31	chr11:34380695-34380745	GM12892	blood:	n/a
32	chr11:34380695-34380745	HUVEC	blood vessel:	n/a
33	chr11:34380695-34380745	ProgFib	skin:	n/a
34	chr11:34380695-34380745	AG09309	skin:	n/a
35	chr11:34380695-34380745	ECC-1	luminal epithelium:	n/a
36	chr11:34380695-34380745	SK-N-SH	brain:	n/a
37	chr11:34380695-34380745	BE2_C	brain:	n/a
38	chr11:34380695-34380745	MCF10A-Er-Src	breast:	n/a
39	chr11:34380695-34380745	HNPCEpiC	eye:	n/a
40	chr11:34380695-34380745	HL-60	blood:	n/a
41	chr11:34380695-34380745	NHDF-neo	bronchial:	n/a
42	chr11:34380695-34380745	GM12891	blood:	n/a
43	chr11:34380695-34380745	Hela-S3	cervix:	n/a
44	chr11:34380695-34380745	Hepatocyte	liver:	n/a
45	chr11:34380695-34380745	A549	lung:	n/a
46	chr11:34380695-34380745	AG04449	skin:	fetal
47	chr11:34380695-34380745	HepG2	liver:	n/a
48	chr11:34380695-34380745	GM19239	blood:	n/a
49	chr11:34380695-34380745	GM12878	blood:	n/a
50	chr11:34380695-34380745	IMR90	lung:	fetal

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	chr11:34171073..34172022-chr11:34380697..34381569,3	MCF-7	breast:
11	chr11:34183076..34183659-chr11:34380555..34381170,2	K562	blood:
12	chr11:34380138..34380872-chr6:26284638..26285343,2	Hela-S3	cervix:
13	chr11:34186780..34187813-chr11:34380499..34381345,5	MCF-7	breast:
14	chr11:34197728..34198296-chr11:34380470..34381106,2	MCF-7	breast:
15	chr11:34380153..34381078-chr20:60718993..60719935,2	Hela-S3	cervix:
16	chr11:34380108..34380740-chr17:43662186..43662724,2	Hela-S3	cervix:
17	chr11:34194851..34196566-chr11:34380231..34381621,20	MCF-7	breast:
18	chr11:34125543..34130810-chr11:34377372..34382966,13	MCF-7	breast:
19	chr11:34170082..34170878-chr11:34380526..34381351,2	K562	blood:
20	chr11:34380524..34381238-chr11:34489841..34490388,3	K562	blood:
21	chr11:34380514..34381443-chr11:34513937..34515065,4	K562	blood:

Variant related genes	Relation type
ABTB2	TF binding region
ABTB2	CpG island
ENSG00000135387	Chromatin interaction
ENSG00000135372	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1925369	0.91[CEU][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs554518	0.90[GIH][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2611134	CAT	cis	parietal	SCAN

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	chr11:34378400-34380800	Active TSS	Small Intestine	intestine
15	chr11:34378400-34381200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:34378600-34381000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr11:34378600-34381000	Active TSS	Brain Angular Gyrus	brain
18	chr11:34378600-34381000	Active TSS	Ovary	ovary
19	chr11:34378600-34381000	Active TSS	Psoas Muscle	Psoas
20	chr11:34378600-34381200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr11:34378600-34381200	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr11:34378600-34381200	Active TSS	Stomach Mucosa	stomach
23	chr11:34378800-34381200	Active TSS	Brain Anterior Caudate	brain
24	chr11:34379000-34381000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr11:34379000-34381000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:34379000-34381000	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr11:34379000-34381000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:34379000-34381200	Active TSS	Thymus	Thymus
29	chr11:34379200-34381000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:34379200-34381000	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr11:34379200-34381200	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr11:34379200-34381400	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr11:34379400-34381000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:34379800-34380800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr11:34379800-34380800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:34379800-34380800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr11:34379800-34381000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr11:34379800-34381000	Flanking Active TSS	Fetal Muscle Trunk	muscle
39	chr11:34379800-34381000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr11:34379800-34381000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr11:34379800-34381200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr11:34379800-34381400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr11:34379800-34381400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:34379800-34381400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:34380000-34380800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:34380000-34380800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:34380000-34380800	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr11:34380000-34380800	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr11:34380000-34380800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:34380000-34380800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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