Variant report

Variant	rs35652367
Chromosome Location	chr11:46723095-46723096
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	POLR2A	chr11:46721587-46723500	K562	blood:	n/a	n/a
2	SIN3A	chr11:46721699-46723215	H1-hESC	embryonic stem cell:	n/a	chr11:46722083-46722096 chr11:46722085-46722096
3	POLR2A	chr11:46721639-46723252	K562	blood:	n/a	n/a
4	GABPA	chr11:46721637-46723464	A549	lung:	n/a	chr11:46722364-46722371 chr11:46722261-46722270 chr11:46722081-46722090
5	MXI1	chr11:46721163-46723281	SK-N-SH	brain:	n/a	n/a
6	ELF1	chr11:46721608-46723099	MCF-7	breast:	n/a	chr11:46722227-46722240 chr11:46722552-46722563 chr11:46722565-46722576
7	GABPA	chr11:46721454-46723338	MCF-7	breast:	n/a	chr11:46722364-46722371 chr11:46722261-46722270 chr11:46722081-46722090
8	ELF1	chr11:46721588-46723242	GM12878	blood:	n/a	chr11:46722227-46722240 chr11:46722552-46722563 chr11:46722565-46722576
9	REST	chr11:46721622-46723098	H1-neurons	neurons:	n/a	chr11:46722083-46722096 chr11:46722045-46722053 chr11:46722838-46722851 chr11:46721944-46721957
10	POLR2A	chr11:46721714-46723125	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:46721665-46723187	PFSK-1	brain:	n/a	n/a
12	ZNF263	chr11:46721847-46723113	K562	blood:	n/a	n/a
13	SMARCB1	chr11:46721692-46723175	Hela-S3	cervix:	n/a	n/a
14	YY1	chr11:46721712-46723234	SK-N-SH	brain:	n/a	chr11:46722241-46722250
15	MAZ	chr11:46721580-46723249	IMR90	lung:	n/a	chr11:46722260-46722270
16	SIN3AK20	chr11:46721595-46723139	MCF-7	breast:	n/a	n/a
17	ZNF263	chr11:46721768-46723297	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:46637616..46640198-chr11:46720757..46723705,2	MCF-7	breast:
2	chr11:46721125..46723767-chr11:46740816..46743369,3	K562	blood:
3	chr11:46637848..46640498-chr11:46721898..46723804,3	K562	blood:
4	chr11:46714752..46720031-chr11:46720626..46723177,8	MCF-7	breast:
5	chr11:46639444..46641700-chr11:46721393..46724232,2	K562	blood:
6	chr11:46722213..46727380-chr11:46743173..46747634,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-F2-1	chr11:46722949-46723226	NONHSAT021191
2	lnc-F2-1	chr11:46722949-46723453	NONHSAT021190
3	lnc-F2-1	chr11:46722758-46723226	NONHSAT021192

Variant related genes	Relation type
ZNF408	TF binding region
ARHGAP1	TF binding region
ENSG00000180210	Chromatin interaction
ENSG00000180423	Chromatin interaction
ENSG00000175224	Chromatin interaction
ENSG00000175220	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10734547	1.00[AMR][1000 genomes]
rs1380949	1.00[AMR][1000 genomes]
rs2035069	1.00[AMR][1000 genomes]
rs35569076	1.00[AMR][1000 genomes]
rs4237546	1.00[AMR][1000 genomes]
rs4423141	1.00[AMR][1000 genomes]
rs4752938	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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking 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	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46720800-46723200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:46720800-46723200	Active TSS	Colon Smooth Muscle	Colon
3	chr11:46720800-46723200	Active TSS	NH-A	brain
4	chr11:46720800-46723400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr11:46720800-46723600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr11:46721000-46723200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:46721000-46723200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:46721000-46723200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:46721000-46723200	Active TSS	Brain Cingulate Gyrus	brain
10	chr11:46721000-46723200	Active TSS	Duodenum Mucosa	Duodenum
11	chr11:46721000-46723200	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr11:46721000-46723200	Active TSS	Rectal Smooth Muscle	rectum
13	chr11:46721000-46723200	Active TSS	Hela-S3	cervix
14	chr11:46721000-46723200	Active TSS	HSMMtube	muscle
15	chr11:46721000-46723200	Active TSS	Osteobl	bone
16	chr11:46721000-46723400	Active TSS	Muscle Satellite Cultured Cells	--
17	chr11:46721000-46723400	Active TSS	NHDF-Ad	bronchial
18	chr11:46721000-46723400	Active TSS	NHLF	lung
19	chr11:46721000-46723600	Active TSS	HSMM	muscle
20	chr11:46721000-46723800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:46721200-46723200	Active TSS	Aorta	Aorta
22	chr11:46721200-46723200	Active TSS	Fetal Intestine Small	intestine
23	chr11:46721200-46723200	Active TSS	Fetal Kidney	kidney
24	chr11:46721200-46723200	Active TSS	Fetal Lung	lung
25	chr11:46721200-46723200	Active TSS	Stomach Mucosa	stomach
26	chr11:46721200-46723200	Active TSS	A549	lung
27	chr11:46721200-46723400	Active TSS	H1 Cell Line	embryonic stem cell
28	chr11:46721200-46723400	Active TSS	H9 Cell Line	embryonic stem cell
29	chr11:46721200-46723400	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr11:46721200-46723400	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr11:46721200-46723400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:46721200-46723400	Active TSS	GM12878-XiMat	blood
33	chr11:46721200-46723600	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr11:46721200-46723600	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr11:46721200-46723600	Active TSS	Left Ventricle	heart
36	chr11:46721200-46723600	Active TSS	Ovary	ovary
37	chr11:46721200-46723600	Active TSS	K562	blood
38	chr11:46721200-46724000	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr11:46721400-46723200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:46721400-46723200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:46721400-46723200	Active TSS	Fetal Heart	heart
42	chr11:46721400-46723200	Active TSS	Pancreas	Pancrea
43	chr11:46721400-46723200	Active TSS	Placenta Amnion	Placenta Amnion
44	chr11:46721400-46723200	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr11:46721400-46723200	Active TSS	Small Intestine	intestine
46	chr11:46721400-46723200	Active TSS	NHEK	skin
47	chr11:46721400-46723400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:46721400-46723400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:46721400-46723400	Active TSS	Fetal Intestine Large	intestine
50	chr11:46721400-46723400	Active TSS	Gastric	stomach

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