Variant report

Variant	rs12786886
Chromosome Location	chr11:16903086-16903087
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	CTCF	chr11:16903000-16903150	AoAF	blood vessel:	n/a	n/a
2	CTCF	chr11:16902936-16903331	K562	blood:	n/a	n/a
3	CTCF	chr11:16903000-16903150	HEK293	kidney:	n/a	n/a
4	RAD21	chr11:16902939-16903196	K562	blood:	n/a	n/a
5	FOS	chr11:16902901-16903248	MCF10A-Er-Src	breast:	n/a	chr11:16903074-16903084 chr11:16903074-16903084 chr11:16903074-16903084 chr11:16903075-16903083
6	CTCF	chr11:16903020-16903170	HMEC	breast:	n/a	n/a
7	CTCF	chr11:16903080-16903230	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr11:16903000-16903150	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:16903011-16903147	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chr11:16903000-16903150	K562	blood:	n/a	n/a
11	CTCF	chr11:16903080-16903230	GM12872	blood:	n/a	n/a
12	CTCF	chr11:16903000-16903150	GM12873	blood:	n/a	n/a
13	CTCF	chr11:16902980-16903130	HPF	lung:	n/a	n/a
14	STAT3	chr11:16902742-16903181	MCF10A-Er-Src	breast:	n/a	chr11:16902796-16902816 chr11:16903053-16903061
15	CTCF	chr11:16903022-16903172	HUVEC	blood vessel:	n/a	n/a
16	CTCF	chr11:16903002-16903126	GM10266	blood:	n/a	n/a
17	CTCF	chr11:16902940-16903090	HCM	heart:	n/a	n/a
18	CTCF	chr11:16903020-16903170	HEK293	kidney:	n/a	n/a
19	JUND	chr11:16902954-16903154	K562	blood:	n/a	chr11:16903074-16903084 chr11:16903074-16903084 chr11:16903074-16903084 chr11:16903075-16903083
20	CTCF	chr11:16902980-16903130	HFF	foreskin:	n/a	n/a
21	CTCF	chr11:16903000-16903150	HMF	breast:	n/a	n/a
22	RAD21	chr11:16902982-16903185	K562	blood:	n/a	n/a
23	CTCF	chr11:16903000-16903150	AG04449	skin:	n/a	n/a
24	CTCF	chr11:16902980-16903130	GM12872	blood:	n/a	n/a
25	CTCF	chr11:16903060-16903210	GM12871	blood:	n/a	n/a
26	CTCF	chr11:16903001-16903163	Lung_OC	lung:	n/a	n/a
27	CTCF	chr11:16903000-16903150	AG04450	lung:	n/a	n/a
28	CTCF	chr11:16902980-16903130	AG10803	skin:	n/a	n/a
29	E2F4	chr11:16902824-16903127	MCF10A-Er-Src	breast:	n/a	n/a
30	CTCF	chr11:16903020-16903170	NHEK	skin:	n/a	n/a
31	NFIC	chr11:16902801-16903268	ECC-1	luminal epithelium:	n/a	n/a
32	CTCF	chr11:16903060-16903210	GM12865	blood:	n/a	n/a
33	CTCF	chr11:16902980-16903130	GM12864	blood:	n/a	n/a
34	CTCF	chr11:16903020-16903170	BE2_C	brain:	n/a	n/a
35	ZNF143	chr11:16902964-16903162	K562	blood:	n/a	n/a
36	CTCF	chr11:16903000-16903150	SAEC	small airway:	n/a	n/a
37	RAD21	chr11:16902839-16903368	ECC-1	luminal epithelium:	n/a	n/a
38	CTCF	chr11:16902945-16903225	NHEK	skin:	n/a	n/a
39	CTCF	chr11:16902960-16903110	MCF-7	breast:	n/a	n/a
40	SMC3	chr11:16902942-16903267	K562	blood:	n/a	n/a
41	FOS	chr11:16902876-16903252	MCF10A-Er-Src	breast:	n/a	chr11:16903074-16903084 chr11:16903074-16903084 chr11:16903074-16903084 chr11:16903075-16903083
42	CTCF	chr11:16902980-16903130	GM12868	blood:	n/a	n/a
43	CTCF	chr11:16903020-16903170	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr11:16903032-16903158	A549	lung:	n/a	n/a
45	CTCF	chr11:16903000-16903150	HPF	lung:	n/a	n/a
46	CTCF	chr11:16903040-16903190	HCM	heart:	n/a	n/a
47	CTCF	chr11:16903033-16903150	Hela-S3	cervix:	n/a	n/a
48	MYC	chr11:16902946-16903213	MCF10A-Er-Src	breast:	n/a	n/a
49	CTCF	chr11:16903020-16903170	GM06990	blood:	n/a	n/a
50	CTCF	chr11:16902982-16903185	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16902656..16905634-chr11:17097144..17099414,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHA7	TF binding region
ENSG00000201403	Chromatin interaction
ENSG00000110700	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11824348	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs12785711	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs12787236	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12793275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12795133	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12802357	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12805659	1.00[AMR][1000 genomes]
rs12806040	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17472529	1.00[AFR][1000 genomes]
rs34441025	1.00[EUR][1000 genomes]
rs34670733	1.00[AMR][1000 genomes]
rs34760218	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35364446	1.00[AMR][1000 genomes]
rs35449646	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35515929	1.00[AMR][1000 genomes]
rs35677666	1.00[EUR][1000 genomes]
rs35873274	1.00[AMR][1000 genomes]
rs71484734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71484736	1.00[AMR][1000 genomes]
rs71484744	1.00[AMR][1000 genomes]
rs72862578	1.00[AFR][1000 genomes]
rs7926072	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7947201	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16891200-16904600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr11:16891600-16903600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:16898000-16903600	Enhancers	Gastric	stomach
4	chr11:16898400-16908400	Weak transcription	HepG2	liver
5	chr11:16899200-16903600	Enhancers	Left Ventricle	heart
6	chr11:16899400-16904600	Weak transcription	Placenta	Placenta
7	chr11:16900000-16903600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:16900000-16903600	Enhancers	Pancreas	Pancrea
9	chr11:16900200-16905400	Enhancers	Stomach Mucosa	stomach
10	chr11:16900400-16903400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:16900600-16905800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:16900800-16903400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:16900800-16905800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:16901000-16903400	Enhancers	Lung	lung
15	chr11:16901000-16903800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:16901200-16904800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:16901400-16904400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:16901600-16903600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:16901600-16903600	Enhancers	Ovary	ovary
20	chr11:16901800-16903600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr11:16902000-16905800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:16902200-16903400	Active TSS	Right Ventricle	heart
23	chr11:16902400-16903400	Enhancers	Fetal Lung	lung
24	chr11:16902400-16903600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr11:16902400-16903600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr11:16902400-16903600	Enhancers	HSMM	muscle
27	chr11:16902400-16903800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:16902400-16903800	Enhancers	Duodenum Mucosa	Duodenum
29	chr11:16902400-16904200	Flanking Active TSS	Fetal Heart	heart
30	chr11:16902600-16903200	Strong transcription	Fetal Intestine Small	intestine
31	chr11:16902600-16903400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr11:16902600-16903400	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr11:16902600-16903400	Flanking Active TSS	HMEC	breast
34	chr11:16902600-16903400	Enhancers	HSMMtube	muscle
35	chr11:16902600-16903600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr11:16902600-16903600	Enhancers	Brain Substantia Nigra	brain
37	chr11:16902600-16903800	Enhancers	GM12878-XiMat	blood
38	chr11:16902600-16905200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr11:16902800-16903200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:16902800-16903200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:16902800-16903200	Enhancers	Spleen	Spleen
42	chr11:16902800-16903400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr11:16902800-16903400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:16902800-16903400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:16902800-16903400	Enhancers	Adipose Nuclei	Adipose
46	chr11:16902800-16903400	Enhancers	Brain Anterior Caudate	brain
47	chr11:16902800-16903400	Enhancers	Fetal Muscle Leg	muscle
48	chr11:16902800-16903400	Enhancers	Rectal Smooth Muscle	rectum
49	chr11:16902800-16903400	Enhancers	NH-A	brain
50	chr11:16902800-16903600	Enhancers	Esophagus	oesophagus

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