Variant report

Variant	rs2030727
Chromosome Location	chr11:63381350-63381351
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	MAX	chr11:63381171-63382232	Hela-S3	cervix:	n/a	chr11:63381543-63381553
2	POLR2A	chr11:63381245-63381384	A549	lung:	n/a	n/a
3	TCF3	chr11:63381077-63381526	GM12878	blood:	n/a	chr11:63381296-63381312
4	USF1	chr11:63380907-63381458	H1-hESC	embryonic stem cell:	n/a	n/a
5	HCFC1	chr11:63380989-63382400	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:63381172-63381478	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:63380882-63382282	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:63381226-63381686	H1-neurons	neurons:	n/a	n/a
9	CREB1	chr11:63381322-63382275	A549	lung:	n/a	n/a
10	MAX	chr11:63381067-63382306	HCT-116	colon:	n/a	chr11:63381543-63381553 chr11:63381109-63381118
11	MAX	chr11:63381209-63382282	HCT-116	colon:	n/a	chr11:63381543-63381553
12	MAX	chr11:63380884-63382308	A549	lung:	n/a	chr11:63381543-63381553 chr11:63381109-63381118
13	MAX	chr11:63381192-63381589	SK-N-SH	brain:	n/a	chr11:63381543-63381553
14	HA-E2F1	chr11:63381029-63382246	Hela-S3	cervix:	n/a	chr11:63382041-63382052 chr11:63381951-63381960 chr11:63382041-63382053 chr11:63382022-63382031
15	POLR2A	chr11:63381214-63381460	GM12878	blood:	n/a	n/a
16	MXI1	chr11:63380458-63382278	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr11:63381154-63382167	GM18951	blood:	n/a	n/a
18	USF1	chr11:63380982-63381363	SK-N-SH_RA	brain:	n/a	n/a
19	MAX	chr11:63381250-63381442	K562	blood:	n/a	n/a
20	SMARCB1	chr11:63381012-63382183	Hela-S3	cervix:	n/a	chr11:63381109-63381118
21	SIN3AK20	chr11:63380935-63382173	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr11:63380965-63382269	GM19099	blood:	n/a	n/a
23	MAX	chr11:63380898-63382294	A549	lung:	n/a	chr11:63381543-63381553 chr11:63381109-63381118
24	SIN3AK20	chr11:63380989-63381598	H1-hESC	embryonic stem cell:	n/a	n/a
25	HMGN3	chr11:63381069-63382175	K562	blood:	n/a	chr11:63381108-63381117
26	MAX	chr11:63381170-63381590	MCF-7	breast:	n/a	chr11:63381543-63381553
27	HDAC2	chr11:63381212-63381455	H1-hESC	embryonic stem cell:	n/a	n/a
28	E2F6	chr11:63380932-63382264	H1-hESC	embryonic stem cell:	n/a	chr11:63381951-63381960 chr11:63382041-63382053 chr11:63382022-63382031
29	MAX	chr11:63381327-63382207	A549	lung:	n/a	chr11:63381543-63381553
30	USF2	chr11:63380922-63381581	H1-hESC	embryonic stem cell:	n/a	n/a
31	RCOR1	chr11:63381106-63382200	K562	blood:	n/a	n/a
32	POLR2A	chr11:63381124-63381482	GM12891	blood:	n/a	n/a
33	POLR2A	chr11:63381234-63381591	H1-neurons	neurons:	n/a	n/a
34	GATA1	chr11:63381265-63382360	K562	blood:	n/a	n/a
35	TCF3	chr11:63381196-63381439	GM12878	blood:	n/a	chr11:63381296-63381312
36	ZBTB7A	chr11:63380953-63381528	K562	blood:	n/a	n/a
37	SIN3AK20	chr11:63381260-63381863	A549	lung:	n/a	n/a
38	MAX	chr11:63380917-63382260	H1-hESC	embryonic stem cell:	n/a	chr11:63381543-63381553 chr11:63381109-63381118
39	MAX	chr11:63381098-63382275	K562	blood:	n/a	chr11:63381543-63381553 chr11:63381109-63381118
40	POLR2A	chr11:63380978-63381460	A549	lung:	n/a	n/a
41	E2F6	chr11:63381173-63381482	K562	blood:	n/a	n/a
42	SIN3A	chr11:63380925-63382049	H1-hESC	embryonic stem cell:	n/a	chr11:63381973-63381986
43	POLR2A	chr11:63381000-63382313	Hela-S3	cervix:	n/a	n/a
44	GTF2F1	chr11:63381342-63381591	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr11:63380905-63382274	H1-hESC	embryonic stem cell:	n/a	chr11:63381543-63381553 chr11:63381109-63381118
46	CTBP2	chr11:63381019-63382072	H1-hESC	embryonic stem cell:	n/a	n/a
47	TCF12	chr11:63380946-63382296	A549	lung:	n/a	chr11:63381549-63381559 chr11:63381349-63381356
48	TCF12	chr11:63381152-63381428	GM12878	blood:	n/a	chr11:63381349-63381356
49	E2F6	chr11:63380914-63382294	H1-hESC	embryonic stem cell:	n/a	chr11:63381951-63381960 chr11:63382041-63382053 chr11:63382022-63382031
50	MXI1	chr11:63381317-63381670	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63374913..63376548-chr11:63380673..63383197,2	K562	blood:
2	chr11:63381325..63382017-chr2:85788347..85788975,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000203520	TF binding region
ENSG00000115486	Chromatin interaction
ENSG00000176485	Chromatin interaction
ENSG00000118640	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11826418	1.00[EUR][1000 genomes]
rs2030728	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs558768	1.00[EUR][1000 genomes]
rs590570	0.93[AFR][1000 genomes]
rs592416	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59485568	1.00[EUR][1000 genomes]
rs60027303	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs615155	1.00[EUR][1000 genomes]
rs652233	0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs663053	1.00[EUR][1000 genomes]
rs683904	1.00[EUR][1000 genomes]
rs684865	1.00[EUR][1000 genomes]
rs7109362	1.00[EUR][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	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	esv32927	chr11:63377277-63387923	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63378400-63382400	Active TSS	Brain Angular Gyrus	brain
2	chr11:63378400-63382400	Active TSS	Ovary	ovary
3	chr11:63379000-63382400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr11:63379000-63382400	Active TSS	Brain Substantia Nigra	brain
5	chr11:63379400-63382200	Active TSS	Brain Cingulate Gyrus	brain
6	chr11:63379400-63382400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:63380000-63382200	Active TSS	Brain Anterior Caudate	brain
8	chr11:63380000-63382400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:63380200-63381400	Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr11:63380200-63382200	Active TSS	H1 Cell Line	embryonic stem cell
11	chr11:63380200-63382200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:63380200-63382400	Active TSS	Brain Hippocampus Middle	brain
13	chr11:63380200-63382400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:63380400-63381400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:63380400-63381400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr11:63380400-63381800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:63380400-63382000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr11:63380400-63382200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:63380400-63382400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr11:63380400-63382400	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr11:63380400-63382400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:63380400-63382400	Active TSS	Aorta	Aorta
23	chr11:63380400-63382400	Active TSS	Duodenum Mucosa	Duodenum
24	chr11:63380400-63382400	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr11:63380400-63382400	Active TSS	Left Ventricle	heart
26	chr11:63380400-63382400	Active TSS	Right Atrium	heart
27	chr11:63380400-63382400	Active TSS	HSMM	muscle
28	chr11:63380400-63382400	Active TSS	HSMMtube	muscle
29	chr11:63380400-63382400	Active TSS	NHLF	lung
30	chr11:63380600-63381400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:63380600-63381400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:63380600-63382000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:63380600-63382200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:63380600-63382200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr11:63380600-63382200	Active TSS	Adipose Nuclei	Adipose
36	chr11:63380600-63382200	Active TSS	Lung	lung
37	chr11:63380600-63382200	Active TSS	Rectal Smooth Muscle	rectum
38	chr11:63380600-63382400	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr11:63380600-63382400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr11:63380600-63382400	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr11:63380600-63382400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr11:63380600-63382400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:63380600-63382400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:63380600-63382400	Active TSS	Colon Smooth Muscle	Colon
45	chr11:63380600-63382400	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr11:63380600-63382400	Active TSS	Pancreas	Pancrea
47	chr11:63380600-63382400	Active TSS	Psoas Muscle	Psoas
48	chr11:63380600-63382400	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr11:63380600-63382400	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr11:63380600-63382400	Active TSS	Stomach Smooth Muscle	stomach

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