Variant report

Variant	rs4414214
Chromosome Location	chr11:9403287-9403288
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:9403242-9403292	GM12878	blood:	n/a
2	chr11:9403242-9403292	HIPEpiC	eye:	n/a
3	chr11:9403242-9403292	HPAEpiC	pulmonary alveolar:	n/a
4	chr11:9403242-9403292	U87	brain:	n/a
5	chr11:9403242-9403292	SAEC	small airway:	n/a
6	chr11:9403242-9403292	HAEpiC	amniotic membrane:	n/a
7	chr11:9403242-9403292	NB4	blood:	n/a
8	chr11:9403242-9403292	Hepatocyte	liver:	n/a
9	chr11:9403242-9403292	PrEC	prostate:	n/a
10	chr11:9403242-9403292	NT2-D1	testis:	n/a
11	chr11:9403242-9403292	HCM	heart:	n/a
12	chr11:9403242-9403292	T-47D	breast:	n/a
13	chr11:9403242-9403292	RPTEC	kidney:	n/a
14	chr11:9403242-9403292	ECC-1	luminal epithelium:	n/a
15	chr11:9403242-9403292	HEEpiC	esophagus:	n/a
16	chr11:9403242-9403292	HRCEpiC	kidney:	n/a
17	chr11:9403242-9403292	HCF	heart:	n/a
18	chr11:9403242-9403292	PANC-1	pancreas:	n/a
19	chr11:9403242-9403292	GM12892	blood:	n/a
20	chr11:9403242-9403292	AG10803	skin:	n/a
21	chr11:9403242-9403292	AG04450	lung:	fetal
22	chr11:9403242-9403292	A549	lung:	n/a
23	chr11:9403242-9403292	BJ	skin:	n/a
24	chr11:9403242-9403292	HL-60	blood:	n/a
25	chr11:9403242-9403292	ProgFib	skin:	n/a
26	chr11:9403242-9403292	AG04449	skin:	fetal
27	chr11:9403242-9403292	HMEC	breast:	n/a
28	chr11:9403242-9403292	HNPCEpiC	eye:	n/a
29	chr11:9403242-9403292	GM06990	blood:	n/a
30	chr11:9403242-9403292	SKMC	muscle:	n/a
31	chr11:9403242-9403292	Caco-2	colon:	n/a
32	chr11:9403242-9403292	MCF-7	breast:	n/a
33	chr11:9403242-9403292	AG09319	gingival:	n/a
34	chr11:9403242-9403292	NHDF-neo	bronchial:	n/a
35	chr11:9403242-9403292	AoSMC	blood vessel:	n/a
36	chr11:9403242-9403292	ovcar-3	ovarian:	n/a
37	chr11:9403242-9403292	HRPEpiC	eye:	n/a
38	chr11:9403242-9403292	Hela-S3	cervix:	n/a
39	chr11:9403242-9403292	HepG2	liver:	n/a
40	chr11:9403242-9403292	PFSK-1	brain:	n/a
41	chr11:9403242-9403292	LNCaP	prostate:	n/a
42	chr11:9403242-9403292	HEK293	kidney:	embryo
43	chr11:9403242-9403292	GM19239	blood:	n/a
44	chr11:9403242-9403292	AG09309	skin:	n/a
45	chr11:9403242-9403292	K562	blood:	n/a
46	chr11:9403242-9403292	HRE	kidney:	n/a
47	chr11:9403242-9403292	NH-A	brain:	n/a
48	chr11:9403242-9403292	HCT-116	colon:	n/a
49	chr11:9403242-9403292	BE2_C	brain:	n/a
50	chr11:9403242-9403292	NHBE	bronchial:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9400713..9404382-chr11:9404774..9408112,4	MCF-7	breast:
2	chr11:9400809..9404284-chr11:9404450..9406324,3	K562	blood:
3	chr11:9401126..9404060-chr11:9404691..9408093,3	MCF-7	breast:
4	chr11:9402784..9404391-chr11:9404476..9406126,2	K562	blood:
5	chr11:9384832..9388447-chr11:9401739..9404383,5	MCF-7	breast:

No data

Variant related genes	Relation type
IPO7	CpG island
ENSG00000205339	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10743100	1.00[EUR][1000 genomes]
rs10743102	1.00[EUR][1000 genomes]
rs10743103	1.00[EUR][1000 genomes]
rs10840197	1.00[EUR][1000 genomes]
rs10840198	1.00[EUR][1000 genomes]
rs11042254	1.00[EUR][1000 genomes]
rs11824009	1.00[AMR][1000 genomes]
rs11825542	1.00[AMR][1000 genomes]
rs12225143	1.00[EUR][1000 genomes]
rs1809855	1.00[EUR][1000 genomes]
rs1874821	1.00[EUR][1000 genomes]
rs2016375	1.00[EUR][1000 genomes]
rs4243946	1.00[EUR][1000 genomes]
rs4328248	1.00[AMR][1000 genomes]
rs4331093	1.00[EUR][1000 genomes]
rs4420271	1.00[EUR][1000 genomes]
rs4450172	1.00[EUR][1000 genomes]
rs4589301	1.00[EUR][1000 genomes]
rs4601780	1.00[EUR][1000 genomes]
rs4625467	1.00[EUR][1000 genomes]
rs4644643	1.00[EUR][1000 genomes]
rs4910448	1.00[EUR][1000 genomes]
rs56306422	1.00[EUR][1000 genomes]
rs57655359	1.00[EUR][1000 genomes]
rs57760683	1.00[AMR][1000 genomes]
rs59206639	1.00[AMR][1000 genomes]
rs59398820	1.00[EUR][1000 genomes]
rs59432040	1.00[AMR][1000 genomes]
rs59618374	1.00[EUR][1000 genomes]
rs59984721	1.00[EUR][1000 genomes]
rs60542289	1.00[EUR][1000 genomes]
rs60748041	1.00[AMR][1000 genomes]
rs61003414	1.00[AMR][1000 genomes]
rs61409427	1.00[EUR][1000 genomes]
rs61708669	1.00[AMR][1000 genomes]
rs7107607	1.00[AMR][1000 genomes]
rs7115224	1.00[AMR][1000 genomes]
rs7119158	1.00[EUR][1000 genomes]
rs7119701	1.00[AMR][1000 genomes]
rs73402339	1.00[EUR][1000 genomes]
rs73402344	1.00[EUR][1000 genomes]
rs73402346	1.00[EUR][1000 genomes]
rs73402362	1.00[EUR][1000 genomes]
rs73402399	1.00[EUR][1000 genomes]
rs73404303	1.00[EUR][1000 genomes]
rs73404305	1.00[EUR][1000 genomes]
rs7931491	1.00[EUR][1000 genomes]
rs7932136	1.00[EUR][1000 genomes]
rs7942119	1.00[EUR][1000 genomes]
rs7944130	1.00[EUR][1000 genomes]
rs7944713	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv508617	chr11:9314027-9408562	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9386800-9406000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:9398200-9405800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:9398600-9405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:9399000-9405800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:9400800-9406000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:9401200-9405800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:9401200-9406000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:9402000-9403400	Enhancers	Stomach Smooth Muscle	stomach
9	chr11:9402200-9403400	Flanking Active TSS	HepG2	liver
10	chr11:9402200-9405600	Weak transcription	Left Ventricle	heart
11	chr11:9402400-9403400	Enhancers	Fetal Intestine Small	intestine
12	chr11:9402600-9403400	Enhancers	Fetal Intestine Large	intestine
13	chr11:9402800-9405800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:9402800-9405800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:9402800-9405800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:9402800-9405800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:9402800-9405800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:9402800-9405800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:9402800-9405800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:9402800-9405800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:9402800-9405800	Weak transcription	A549	lung
22	chr11:9402800-9405800	Weak transcription	NHDF-Ad	bronchial
23	chr11:9402800-9405800	Weak transcription	NHEK	skin
24	chr11:9403000-9405400	Weak transcription	Fetal Heart	heart
25	chr11:9403000-9405800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:9403000-9405800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:9403000-9405800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:9403000-9405800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:9403200-9405800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:9403200-9405800	Weak transcription	Rectal Smooth Muscle	rectum

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