Variant report

Variant	rs34760218
Chromosome Location	chr11:16904578-16904579
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	RAD21	chr11:16904575-16905298	HCT-116	colon:	n/a	chr11:16904926-16904945 chr11:16904907-16904921
2	CBX3	chr11:16904386-16905217	HCT-116	colon:	n/a	n/a
3	NFIC	chr11:16904494-16905070	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:16841547..16842503-chr11:16904428..16905369,3	MCF-7	breast:
2	chr11:16809870..16810603-chr11:16904407..16905228,4	MCF-7	breast:
3	chr11:16902656..16905634-chr11:17097144..17099414,2	MCF-7	breast:
4	chr11:16841535..16842310-chr11:16904321..16905209,2	K562	blood:

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

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11824348	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12708338	0.88[ASN][1000 genomes]
rs12785711	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12786886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12787236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12793275	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12795133	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12802357	1.00[EUR][1000 genomes]
rs12805659	1.00[AMR][1000 genomes]
rs12806040	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34441025	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34670733	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35364446	1.00[AMR][1000 genomes]
rs35449646	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35515929	1.00[AMR][1000 genomes]
rs35677666	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35865759	0.88[ASN][1000 genomes]
rs35873274	1.00[AMR][1000 genomes]
rs6486322	1.00[ASN][1000 genomes]
rs6486323	1.00[ASN][1000 genomes]
rs6486324	1.00[ASN][1000 genomes]
rs7123174	0.88[ASN][1000 genomes]
rs71484734	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71484736	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484744	1.00[AMR][1000 genomes]
rs7394448	1.00[ASN][1000 genomes]
rs7394466	1.00[ASN][1000 genomes]
rs7394865	1.00[ASN][1000 genomes]
rs7395923	1.00[ASN][1000 genomes]
rs7396550	1.00[ASN][1000 genomes]
rs7926072	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7931313	0.88[ASN][1000 genomes]
rs7943517	1.00[ASN][1000 genomes]
rs7944146	1.00[ASN][1000 genomes]
rs7947201	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16891200-16904600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr11:16898400-16908400	Weak transcription	HepG2	liver
3	chr11:16899400-16904600	Weak transcription	Placenta	Placenta
4	chr11:16900200-16905400	Enhancers	Stomach Mucosa	stomach
5	chr11:16900600-16905800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:16900800-16905800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:16901200-16904800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:16902000-16905800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:16902600-16905200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr11:16903200-16904800	Weak transcription	Spleen	Spleen
11	chr11:16903200-16905200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:16903200-16908800	Weak transcription	Fetal Intestine Small	intestine
13	chr11:16903400-16904600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:16903400-16904600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:16903400-16904600	Weak transcription	Adipose Nuclei	Adipose
16	chr11:16903400-16904800	Weak transcription	Fetal Lung	lung
17	chr11:16903400-16905000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:16903400-16905000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:16903400-16905200	Enhancers	NHEK	skin
20	chr11:16903400-16906400	Enhancers	HMEC	breast
21	chr11:16903600-16904600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:16903600-16904600	Weak transcription	Esophagus	oesophagus
23	chr11:16903600-16904600	Weak transcription	Gastric	stomach
24	chr11:16903600-16904600	Weak transcription	Left Ventricle	heart
25	chr11:16903600-16904600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:16903600-16904600	Weak transcription	Right Ventricle	heart
27	chr11:16903600-16904600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:16903600-16904600	Weak transcription	Osteobl	bone
29	chr11:16903600-16904800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:16903600-16904800	Weak transcription	Pancreas	Pancrea
31	chr11:16903600-16905000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:16903600-16908800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr11:16903600-16914400	Weak transcription	Right Atrium	heart
34	chr11:16903800-16904600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr11:16904200-16905600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:16904200-16906600	Enhancers	Fetal Heart	heart
37	chr11:16904400-16905400	Enhancers	Rectal Mucosa Donor 31	rectum

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