Variant report

Variant	rs4757441
Chromosome Location	chr11:16902674-16902675
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16901136..16902901-chr11:16914387..16916198,2	K562	blood:
2	chr11:16902656..16905634-chr11:17097144..17099414,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201403	Chromatin interaction
ENSG00000110700	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11024054	1.00[ASW][hapmap];0.92[GIH][hapmap];0.82[TSI][hapmap]
rs11024058	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024059	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024061	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024069	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11024071	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11024073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12222901	1.00[ASW][hapmap];0.88[GIH][hapmap];0.82[TSI][hapmap]
rs12223233	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12223369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12226273	0.86[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17698419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17772101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756868	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4756870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4756871	0.86[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55814202	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56005045	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61496580	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72864090	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72864092	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72864100	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4757441	INSC	cis	cerebellum	SCAN

Chromatin state (count:51 , 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	chr11:16898800-16902800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:16899200-16903000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:16899200-16903600	Enhancers	Left Ventricle	heart
8	chr11:16899400-16904600	Weak transcription	Placenta	Placenta
9	chr11:16900000-16903600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:16900000-16903600	Enhancers	Pancreas	Pancrea
11	chr11:16900200-16905400	Enhancers	Stomach Mucosa	stomach
12	chr11:16900400-16903400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:16900600-16905800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:16900800-16902800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:16900800-16902800	Weak transcription	Adipose Nuclei	Adipose
16	chr11:16900800-16903400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr11:16900800-16905800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:16901000-16903400	Enhancers	Lung	lung
19	chr11:16901000-16903800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:16901200-16902800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:16901200-16902800	Weak transcription	Brain Anterior Caudate	brain
22	chr11:16901200-16904800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:16901400-16904400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:16901600-16903600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:16901600-16903600	Enhancers	Ovary	ovary
26	chr11:16901800-16902800	Weak transcription	Esophagus	oesophagus
27	chr11:16901800-16902800	Weak transcription	Spleen	Spleen
28	chr11:16901800-16903600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr11:16902000-16902800	Enhancers	NHEK	skin
30	chr11:16902000-16905800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:16902200-16902800	Active TSS	Right Atrium	heart
32	chr11:16902200-16903400	Active TSS	Right Ventricle	heart
33	chr11:16902400-16902800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:16902400-16903400	Enhancers	Fetal Lung	lung
35	chr11:16902400-16903600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr11:16902400-16903600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr11:16902400-16903600	Enhancers	HSMM	muscle
38	chr11:16902400-16903800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:16902400-16903800	Enhancers	Duodenum Mucosa	Duodenum
40	chr11:16902400-16904200	Flanking Active TSS	Fetal Heart	heart
41	chr11:16902600-16902800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:16902600-16903000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr11:16902600-16903200	Strong transcription	Fetal Intestine Small	intestine
44	chr11:16902600-16903400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr11:16902600-16903400	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr11:16902600-16903400	Flanking Active TSS	HMEC	breast
47	chr11:16902600-16903400	Enhancers	HSMMtube	muscle
48	chr11:16902600-16903600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr11:16902600-16903600	Enhancers	Brain Substantia Nigra	brain
50	chr11:16902600-16903800	Enhancers	GM12878-XiMat	blood

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