Variant report

Variant	rs35382855
Chromosome Location	chr11:75062783-75062784
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	MXI1	chr11:75061581-75063894	IMR90	lung:	n/a	n/a
2	POLR2A	chr11:75062281-75063713	K562	blood:	n/a	n/a
3	POLR2A	chr11:75062491-75063155	HCT-116	colon:	n/a	n/a
4	POLR2A	chr11:75062513-75062981	MCF-7	breast:	n/a	n/a
5	POLR2A	chr11:75061938-75063689	HepG2	liver:	n/a	n/a
6	E2F4	chr11:75061989-75063690	K562	blood:	n/a	chr11:75062918-75062927
7	CHD2	chr11:75062628-75063033	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr11:75061677-75062927	K562	blood:	n/a	chr11:75062708-75062726 chr11:75062711-75062724
9	MAX	chr11:75061600-75063828	HepG2	liver:	n/a	chr11:75061617-75061627 chr11:75062456-75062466 chr11:75061834-75061844
10	MYC	chr11:75061690-75063690	K562	blood:	n/a	chr11:75062456-75062466 chr11:75061834-75061844
11	POLR2A	chr11:75062521-75063077	A549	lung:	n/a	n/a
12	CREB1	chr11:75062027-75063172	H1-hESC	embryonic stem cell:	n/a	n/a
13	MXI1	chr11:75060591-75063866	SK-N-SH	brain:	n/a	n/a
14	CREB1	chr11:75061754-75063276	K562	blood:	n/a	n/a
15	UBTF	chr11:75062507-75063634	K562	blood:	n/a	n/a
16	ZBTB7A	chr11:75062204-75063554	ECC-1	luminal epithelium:	n/a	chr11:75063403-75063410
17	MAZ	chr11:75061261-75063229	IMR90	lung:	n/a	chr11:75061617-75061627 chr11:75062456-75062466 chr11:75061834-75061844
18	YY1	chr11:75062250-75063657	HepG2	liver:	n/a	chr11:75062836-75062850 chr11:75063255-75063269 chr11:75063407-75063416
19	HCFC1	chr11:75062336-75063667	K562	blood:	n/a	n/a
20	REST	chr11:75062777-75063112	PANC-1	pancreas:	n/a	chr11:75062832-75062842
21	POLR2A	chr11:75062507-75063129	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr11:75062234-75063913	K562	blood:	n/a	n/a
23	YY1	chr11:75062137-75063020	K562	blood:	n/a	chr11:75062836-75062850
24	CTBP2	chr11:75061720-75063688	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr11:75061989-75063414	ECC-1	luminal epithelium:	n/a	chr11:75062456-75062466
26	POLR2A	chr11:75062768-75063417	SK-N-SH	brain:	n/a	n/a
27	HMGN3	chr11:75062240-75063710	K562	blood:	n/a	n/a
28	HDAC2	chr11:75061620-75063413	MCF-7	breast:	n/a	n/a
29	ZNF143	chr11:75062459-75063099	GM12878	blood:	n/a	chr11:75062831-75062841
30	MAZ	chr11:75062561-75063090	Hela-S3	cervix:	n/a	n/a
31	MAX	chr11:75061729-75063402	SK-N-SH	brain:	n/a	chr11:75062456-75062466 chr11:75061834-75061844
32	POLR2A	chr11:75062486-75063743	K562	blood:	n/a	n/a
33	POLR2A	chr11:75061661-75063782	HL-60	blood:	n/a	n/a
34	CTCF	chr11:75062512-75062783	K562	blood:	n/a	chr11:75062708-75062726 chr11:75062711-75062724
35	REST	chr11:75062548-75062854	K562	blood:	n/a	chr11:75062735-75062745 chr11:75062832-75062842
36	GABPA	chr11:75062699-75063647	K562	blood:	n/a	n/a
37	POLR2A	chr11:75062543-75062963	ProgFib	skin:	n/a	n/a
38	MAX	chr11:75062566-75063050	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr11:75062535-75063066	Gliobla	brain:	n/a	n/a
40	ELF1	chr11:75062750-75063015	K562	blood:	n/a	n/a
41	TBL1XR1	chr11:75062575-75063618	K562	blood:	n/a	n/a
42	SMC3	chr11:75062563-75063035	Hela-S3	cervix:	n/a	chr11:75062710-75062724
43	JUND	chr11:75062511-75063678	K562	blood:	n/a	n/a
44	POLR2A	chr11:75061757-75063865	NB4	blood:	n/a	n/a
45	POLR2A	chr11:75062765-75063271	GM12878	blood:	n/a	n/a
46	TCF7L2	chr11:75062233-75063745	HCT-116	colon:	n/a	n/a
47	CREB1	chr11:75062095-75063413	A549	lung:	n/a	n/a
48	POLR2A	chr11:75062770-75063159	PFSK-1	brain:	n/a	n/a
49	MAZ	chr11:75061494-75063705	K562	blood:	n/a	chr11:75061617-75061627 chr11:75062456-75062466 chr11:75061834-75061844
50	MYC	chr11:75061669-75063745	NB4	blood:	n/a	chr11:75062456-75062466 chr11:75061834-75061844

No.	Distal block	Cell Line	Cell type
1	chr11:75061780..75064300-chr11:75109349..75111939,3	MCF-7	breast:
2	chr11:75061972..75065288-chr11:75110522..75113942,5	K562	blood:
3	chr11:75043210..75047420-chr11:75061230..75064804,5	MCF-7	breast:

Variant related genes	Relation type
ARRB1	TF binding region
ENSG00000199090	Chromatin interaction
ENSG00000149273	Chromatin interaction
ENSG00000206941	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12274033	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12280535	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12290287	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34867163	0.84[ASN][1000 genomes]
rs59368208	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
3	nsv522447	chr11:74982939-75068767	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	57 gene(s)	inside rSNPs	diseases
4	esv3374722	chr11:75060004-75064302	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
5	esv3338679	chr11:75061154-75063652	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
6	esv3423985	chr11:75061529-75064077	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
7	esv3380305	chr11:75061754-75063802	Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 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	chr11:75060800-75063600	Active TSS	Rectal Smooth Muscle	rectum
2	chr11:75061000-75063600	Active TSS	Lung	lung
3	chr11:75061400-75063200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:75061400-75063800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:75061600-75063200	Active TSS	Stomach Mucosa	stomach
6	chr11:75061600-75063400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:75061600-75063600	Flanking Active TSS	Liver	Liver
8	chr11:75061600-75063600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr11:75061800-75063000	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr11:75061800-75063000	Enhancers	Primary B cells from peripheral blood	blood
11	chr11:75061800-75063600	Active TSS	Colon Smooth Muscle	Colon
12	chr11:75061800-75063600	Active TSS	Small Intestine	intestine
13	chr11:75061800-75063800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr11:75062000-75062800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:75062000-75063200	Active TSS	A549	lung
16	chr11:75062000-75063400	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr11:75062000-75063600	Active TSS	Primary monocytes fromperipheralblood	blood
18	chr11:75062000-75063600	Active TSS	Psoas Muscle	Psoas
19	chr11:75062000-75064000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr11:75062200-75063000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
21	chr11:75062200-75063000	Active TSS	Gastric	stomach
22	chr11:75062200-75063000	Active TSS	Right Ventricle	heart
23	chr11:75062200-75063000	Active TSS	Monocytes-CD14+_RO01746	blood
24	chr11:75062200-75063200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr11:75062200-75063200	Active TSS	HSMMtube	muscle
26	chr11:75062200-75063400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:75062200-75063400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:75062200-75063400	Active TSS	Fetal Intestine Small	intestine
29	chr11:75062200-75063400	Active TSS	Fetal Stomach	stomach
30	chr11:75062200-75063400	Active TSS	HUVEC	blood vessel
31	chr11:75062200-75063600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr11:75062200-75063600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr11:75062200-75063600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr11:75062200-75063600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:75062200-75063600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:75062200-75063600	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr11:75062200-75063600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:75062200-75063600	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr11:75062200-75063600	Active TSS	Brain Anterior Caudate	brain
40	chr11:75062200-75063600	Active TSS	Brain Substantia Nigra	brain
41	chr11:75062200-75063600	Active TSS	Duodenum Mucosa	Duodenum
42	chr11:75062200-75063600	Active TSS	Ovary	ovary
43	chr11:75062200-75063600	Active TSS	HSMM	muscle
44	chr11:75062200-75063800	Active TSS	H9 Cell Line	embryonic stem cell
45	chr11:75062200-75063800	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr11:75062200-75064000	Active TSS	Brain Angular Gyrus	brain
47	chr11:75062400-75062800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:75062400-75063000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:75062400-75063000	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr11:75062400-75063000	Active TSS	Primary T helper cells fromperipheralblood	blood

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