Variant report

Variant	rs16934941
Chromosome Location	chr11:18127921-18127922
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	POLR2A	chr11:18127157-18127939	SK-N-MC	brain:	n/a	n/a
2	TBP	chr11:18127385-18127936	K562	blood:	n/a	n/a
3	POLR2A	chr11:18127256-18127946	HUVEC	blood vessel:	n/a	n/a
4	MAX	chr11:18127246-18127931	SK-N-SH	brain:	n/a	n/a
5	E2F4	chr11:18127415-18127932	K562	blood:	n/a	n/a
6	CTCF	chr11:18127559-18128042	GM10266	blood:	n/a	chr11:18127688-18127709 chr11:18127694-18127710 chr11:18127693-18127711
7	MAX	chr11:18127263-18127933	ECC-1	luminal epithelium:	n/a	n/a
8	RELA	chr11:18127468-18127924	GM10847	blood:	n/a	n/a
9	MXI1	chr11:18126193-18128461	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr11:18127880-18128030	HFF-Myc	foreskin:	n/a	n/a
11	GABPA	chr11:18127265-18127966	MCF-7	breast:	n/a	n/a
12	EP300	chr11:18127293-18127990	SK-N-SH	brain:	n/a	chr11:18127296-18127305
13	TBP	chr11:18127547-18127936	GM12878	blood:	n/a	n/a
14	CTCF	chr11:18127452-18127961	A549	lung:	n/a	chr11:18127688-18127709 chr11:18127694-18127710 chr11:18127693-18127711
15	POLR2A	chr11:18127202-18127960	HepG2	liver:	n/a	n/a
16	SIN3AK20	chr11:18127231-18128045	MCF-7	breast:	n/a	n/a
17	RCOR1	chr11:18127404-18127937	K562	blood:	n/a	n/a
18	POU2F2	chr11:18127401-18128009	GM12878	blood:	n/a	n/a
19	TCF12	chr11:18127146-18128036	A549	lung:	n/a	chr11:18127372-18127382 chr11:18127719-18127726
20	MYBL2	chr11:18127322-18127924	HepG2	liver:	n/a	n/a
21	SP2	chr11:18127410-18128044	HepG2	liver:	n/a	n/a
22	FOXM1	chr11:18127344-18127975	GM12878	blood:	n/a	n/a
23	ELF1	chr11:18127294-18127942	MCF-7	breast:	n/a	n/a
24	POLR2A	chr11:18127025-18128034	PFSK-1	brain:	n/a	n/a
25	CBX3	chr11:18127389-18127961	K562	blood:	n/a	n/a
26	SIN3AK20	chr11:18127406-18127942	PANC-1	pancreas:	n/a	n/a
27	CTCF	chr11:18127357-18128070	A549	lung:	n/a	chr11:18127688-18127709 chr11:18127694-18127710 chr11:18127693-18127711
28	ELF1	chr11:18127269-18127961	MCF-7	breast:	n/a	n/a
29	NFIC	chr11:18127314-18128006	ECC-1	luminal epithelium:	n/a	chr11:18127716-18127732 chr11:18127715-18127732
30	CTCF	chr11:18127920-18128012	GM10248	blood:	n/a	n/a
31	GABPA	chr11:18127060-18128080	MCF-7	breast:	n/a	n/a
32	HCFC1	chr11:18126925-18128087	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr11:18127905-18128045	GM12892	blood:	n/a	n/a
34	SP2	chr11:18127341-18127932	HepG2	liver:	n/a	n/a
35	ETS1	chr11:18127256-18127941	A549	lung:	n/a	chr11:18127618-18127627
36	BCL3	chr11:18127386-18127944	A549	lung:	n/a	n/a
37	CTCF	chr11:18127482-18127962	IMR90	lung:	n/a	chr11:18127688-18127709 chr11:18127694-18127710 chr11:18127693-18127711
38	ZBTB7A	chr11:18127047-18128015	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr11:18127211-18127949	U87	brain:	n/a	n/a
40	CREB1	chr11:18127252-18127961	HepG2	liver:	n/a	n/a
41	HDAC2	chr11:18127202-18128001	MCF-7	breast:	n/a	n/a
42	FOXM1	chr11:18127364-18127938	GM12878	blood:	n/a	n/a
43	GABPA	chr11:18127222-18127997	SK-N-SH	brain:	n/a	n/a
44	MAX	chr11:18127097-18128018	A549	lung:	n/a	n/a
45	CTCF	chr11:18127909-18128050	GM19240	blood:	n/a	n/a
46	SP1	chr11:18127393-18127947	A549	lung:	n/a	n/a
47	CTCF	chr11:18126993-18128079	SK-N-SH	brain:	n/a	chr11:18127688-18127709 chr11:18127694-18127710 chr11:18127693-18127711
48	NFIC	chr11:18127305-18127982	SK-N-SH	brain:	n/a	chr11:18127716-18127732 chr11:18127715-18127732
49	POLR2A	chr11:18127213-18127980	H1-hESC	embryonic stem cell:	n/a	n/a
50	REST	chr11:18126936-18128074	H1-neurons	neurons:	n/a	chr11:18127714-18127727 chr11:18127366-18127379 chr11:18127711-18127724

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18126132..18128998-chr11:18342491..18344042,2	K562	blood:

Variant related genes	Relation type
HIGD1AP5	TF binding region
SAAL1	TF binding region
ENSG00000110768	Chromatin interaction
ENSG00000110756	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10466422	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11024459	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11024463	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11024464	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11024481	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11024483	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270273	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12276137	1.00[AMR][1000 genomes]
rs12289911	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290774	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290775	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292912	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293054	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294071	1.00[YRI][hapmap]
rs12294948	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12295348	1.00[AMR][1000 genomes]
rs12295423	0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377295	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377403	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16934928	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16935117	1.00[AMR][1000 genomes]
rs28482781	1.00[AMR][1000 genomes]
rs7106562	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110450	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7120654	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7121325	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7129230	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7938082	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7948660	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs871698	0.98[AFR][1000 genomes];1.00[AMR][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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv983174	chr11:18127720-18135636	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18125800-18128000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr11:18126000-18128000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:18126000-18128200	Active TSS	A549	lung
4	chr11:18126200-18128000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:18126200-18128000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr11:18126200-18128000	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr11:18126200-18128000	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr11:18126400-18128000	Active TSS	H1 Cell Line	embryonic stem cell
9	chr11:18126400-18128000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:18126400-18128000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:18126400-18128000	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr11:18126400-18128000	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr11:18126400-18128000	Active TSS	NH-A	brain
14	chr11:18126400-18128200	Active TSS	Ovary	ovary
15	chr11:18126400-18128200	Active TSS	NHDF-Ad	bronchial
16	chr11:18126600-18128000	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr11:18126600-18128000	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr11:18126600-18128000	Active TSS	Brain Substantia Nigra	brain
19	chr11:18126600-18128000	Active TSS	GM12878-XiMat	blood
20	chr11:18126600-18128000	Active TSS	HSMM	muscle
21	chr11:18126600-18128000	Active TSS	K562	blood
22	chr11:18126600-18128000	Active TSS	NHLF	lung
23	chr11:18126600-18128200	Active TSS	Brain Angular Gyrus	brain
24	chr11:18126600-18128200	Active TSS	Fetal Brain Female	brain
25	chr11:18126600-18128200	Active TSS	Psoas Muscle	Psoas
26	chr11:18126600-18128400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:18126600-18128400	Active TSS	Fetal Brain Male	brain
28	chr11:18126800-18128000	Active TSS	Brain Germinal Matrix	brain
29	chr11:18126800-18128000	Active TSS	Colonic Mucosa	Colon
30	chr11:18126800-18128000	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr11:18126800-18128000	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr11:18126800-18128200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:18126800-18128200	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr11:18126800-18128200	Active TSS	Brain Cingulate Gyrus	brain
35	chr11:18126800-18128200	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr11:18126800-18128200	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr11:18126800-18128200	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr11:18126800-18128200	Active TSS	HSMMtube	muscle
39	chr11:18126800-18128400	Active TSS	Stomach Smooth Muscle	stomach
40	chr11:18127000-18128000	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr11:18127000-18128000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:18127000-18128000	Active TSS	Aorta	Aorta
43	chr11:18127000-18128000	Active TSS	Duodenum Mucosa	Duodenum
44	chr11:18127000-18128000	Active TSS	Left Ventricle	heart
45	chr11:18127000-18128000	Active TSS	Lung	lung
46	chr11:18127000-18128000	Active TSS	Osteobl	bone
47	chr11:18127000-18128400	Active TSS	Brain Anterior Caudate	brain
48	chr11:18127200-18128000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr11:18127200-18128000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr11:18127200-18128200	Active TSS	Skeletal Muscle Female	skeletal muscle

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