Variant report

Variant	rs12418637
Chromosome Location	chr11:72061218-72061219
allele	A/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	REST	chr11:72060618-72061269	SK-N-SH	brain:	n/a	chr11:72061180-72061189 chr11:72060847-72060854
2	UBTF	chr11:72060794-72061256	K562	blood:	n/a	n/a
3	EP300	chr11:72058833-72062764	SK-N-SH	brain:	n/a	chr11:72059339-72059349 chr11:72061637-72061646 chr11:72059821-72059835
4	FOSL2	chr11:72060592-72061266	SK-N-SH	brain:	n/a	chr11:72060800-72060807
5	RAD21	chr11:72060541-72061460	SK-N-SH_RA	brain:	n/a	chr11:72060947-72060961
6	JUN	chr11:72060708-72061338	K562	blood:	n/a	chr11:72060800-72060807
7	EP300	chr11:72060548-72061491	SK-N-SH_RA	brain:	n/a	n/a
8	NFIC	chr11:72060529-72061358	SK-N-SH	brain:	n/a	n/a
9	SPI1	chr11:72061042-72061285	K562	blood:	n/a	chr11:72061182-72061195 chr11:72061183-72061196 chr11:72061184-72061193
10	TEAD4	chr11:72060471-72061313	SK-N-SH	brain:	n/a	n/a
11	EP300	chr11:72060540-72061499	SK-N-SH_RA	brain:	n/a	n/a
12	TCF12	chr11:72060389-72061675	SK-N-SH	brain:	n/a	n/a
13	MAX	chr11:72060543-72061468	SK-N-SH	brain:	n/a	n/a
14	SPI1	chr11:72061093-72061286	K562	blood:	n/a	chr11:72061182-72061195 chr11:72061183-72061196 chr11:72061184-72061193
15	TCF12	chr11:72060467-72061497	SK-N-SH	brain:	n/a	n/a
16	YY1	chr11:72060667-72061223	SK-N-SH_RA	brain:	n/a	n/a
17	RXRA	chr11:72060653-72061334	SK-N-SH	brain:	n/a	chr11:72060918-72060934 chr11:72060918-72060932
18	POLR2A	chr11:72060602-72061248	SK-N-SH	brain:	n/a	n/a
19	CTCF	chr11:72061080-72061230	BE2_C	brain:	n/a	n/a
20	EP300	chr11:72060482-72061465	SK-N-SH	brain:	n/a	n/a
21	GATA3	chr11:72060449-72061451	SK-N-SH	brain:	n/a	n/a
22	PBX3	chr11:72060500-72061619	SK-N-SH	brain:	n/a	n/a
23	PBX3	chr11:72060627-72061544	SK-N-SH	brain:	n/a	n/a
24	SPI1	chr11:72060944-72061374	HL-60	blood:	n/a	chr11:72061182-72061195 chr11:72061183-72061196 chr11:72061184-72061193
25	RXRA	chr11:72060565-72061415	SK-N-SH	brain:	n/a	chr11:72060918-72060934 chr11:72060918-72060932
26	POLR2A	chr11:72060672-72061221	SK-N-SH	brain:	n/a	n/a
27	RAD21	chr11:72060588-72061277	SK-N-SH_RA	brain:	n/a	chr11:72060947-72060961
28	MAX	chr11:72060876-72061267	K562	blood:	n/a	n/a
29	GATA3	chr11:72060556-72061508	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72044785..72046493-chr11:72058808..72061387,2	K562	blood:
2	chr11:72060387..72063032-chr11:72069147..72071738,2	K562	blood:
3	chr11:72051229..72053179-chr11:72059404..72061330,2	K562	blood:
4	chr11:72061191..72063131-chr11:72144186..72146277,2	K562	blood:

Variant related genes	Relation type
ENSG00000256739	TF binding region
ENSG00000255672	TF binding region
ENSG00000162129	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12416804	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421674	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162126	0.87[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508201	0.88[CEU][hapmap];0.91[GIH][hapmap];0.88[MEX][hapmap];0.83[YRI][hapmap]
rs2508865	0.88[CEU][hapmap];0.90[GIH][hapmap];0.87[MEX][hapmap];0.93[YRI][hapmap]
rs3750906	0.83[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.80[YRI][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3900852	0.81[MEX][hapmap]
rs474629	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs487288	0.83[YRI][hapmap]
rs504217	0.83[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55721826	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55907154	0.82[EUR][1000 genomes]
rs56076328	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56171963	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57614093	0.82[EUR][1000 genomes]
rs58044536	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58945323	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59612321	0.82[EUR][1000 genomes]
rs60081894	0.83[EUR][1000 genomes]
rs61036532	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs680660	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73530718	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73530724	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73530754	0.85[EUR][1000 genomes]
rs73530756	0.85[EUR][1000 genomes]
rs7940062	0.88[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][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	nsv832206	chr11:72006573-72176017	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72012800-72070600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:72026600-72067400	Weak transcription	Fetal Intestine Large	intestine
3	chr11:72033000-72075600	Weak transcription	A549	lung
4	chr11:72033200-72063800	Weak transcription	Aorta	Aorta
5	chr11:72038200-72071200	Weak transcription	HMEC	breast
6	chr11:72038400-72076600	Weak transcription	Liver	Liver
7	chr11:72039800-72077400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:72040000-72070800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr11:72040400-72069400	Weak transcription	Fetal Brain Female	brain
10	chr11:72040800-72070800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:72041400-72064600	Weak transcription	Hela-S3	cervix
12	chr11:72041800-72063600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:72041800-72067400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:72041800-72072200	Weak transcription	HUVEC	blood vessel
15	chr11:72041800-72076000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:72043200-72076600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr11:72044800-72063600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:72045600-72065200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:72045800-72065600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:72045800-72094600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:72046000-72066200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr11:72046000-72074200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:72046200-72067800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr11:72047200-72065600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:72048200-72067400	Weak transcription	Fetal Stomach	stomach
26	chr11:72048200-72069400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:72048400-72063200	Weak transcription	Placenta	Placenta
28	chr11:72048400-72067800	Weak transcription	NHEK	skin
29	chr11:72049600-72067600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:72050000-72092200	Weak transcription	Pancreas	Pancrea
31	chr11:72050200-72063400	Weak transcription	Dnd41	blood
32	chr11:72050200-72064200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr11:72051200-72062400	Weak transcription	Primary B cells from cord blood	blood
34	chr11:72051200-72067800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:72051600-72063200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr11:72054000-72063600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:72054200-72063400	Weak transcription	Primary T cells from cord blood	blood
38	chr11:72054800-72063000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:72054800-72067600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:72059600-72062400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr11:72059800-72062600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr11:72059800-72086800	Weak transcription	Fetal Brain Male	brain
43	chr11:72060200-72061400	Enhancers	Adipose Nuclei	Adipose
44	chr11:72060200-72061400	Enhancers	Fetal Muscle Leg	muscle
45	chr11:72060200-72062400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr11:72060400-72061400	Enhancers	Brain Cingulate Gyrus	brain
47	chr11:72060400-72061400	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr11:72060400-72061400	Enhancers	Fetal Heart	heart
49	chr11:72060400-72061400	Enhancers	Right Ventricle	heart
50	chr11:72060400-72061400	Enhancers	HSMMtube	muscle

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