Variant report

Variant	rs2096884
Chromosome Location	chr11:120173354-120173355
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:120173137-120174649	HCT-116	colon:	n/a	chr11:120173903-120173924 chr11:120173909-120173925 chr11:120173952-120173973 chr11:120173959-120173972 chr11:120173908-120173926 chr11:120173913-120173921 chr11:120173957-120173975
2	CTCF	chr11:120173140-120173430	SAEC	small airway:	n/a	n/a
3	FOXA1	chr11:120172522-120173447	T-47D	breast:	n/a	n/a
4	CTCF	chr11:120173240-120173390	GM12873	blood:	n/a	n/a
5	CTCF	chr11:120173320-120173470	HCT-116	colon:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:120171583..120174537-chr11:120174642..120177317,2	MCF-7	breast:
2	chr11:120172949..120175534-chr2:55468115..55470994,2	MCF-7	breast:
3	chr11:120126928..120129765-chr11:120172517..120174089,2	MCF-7	breast:
4	chr11:120172975..120174511-chr11:120180188..120181790,2	MCF-7	breast:
5	chr11:120101055..120116563-chr11:120160593..120179156,52	K562	blood:
6	chr11:120106624..120107576-chr11:120173121..120174108,4	K562	blood:
7	chr11:120099434..120101938-chr11:120172403..120174898,2	K562	blood:
8	chr11:120104352..120110604-chr11:120164438..120175098,43	MCF-7	breast:
9	chr11:120172516..120174094-chr11:120193101..120194869,2	MCF-7	breast:
10	chr11:120105406..120106378-chr11:120172236..120174440,21	K562	blood:
11	chr11:120172447..120175021-chr11:120193864..120196695,3	MCF-7	breast:
12	chr11:120104420..120112680-chr11:120168705..120181524,41	K562	blood:
13	chr11:120104320..120113596-chr11:120167938..120177639,38	MCF-7	breast:
14	chr11:120105456..120106436-chr11:120173320..120174423,6	MCF-7	breast:
15	chr11:120173019..120175401-chr11:120178309..120180098,2	MCF-7	breast:

No data

Variant related genes	Relation type
POU2F3	TF binding region
ENSG00000181264	Chromatin interaction
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1941410	0.95[JPT][hapmap]

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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2096884	OR6X1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120169600-120178200	Enhancers	Placenta	Placenta
2	chr11:120170800-120173600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:120170800-120174600	Weak transcription	HMEC	breast
4	chr11:120170800-120174800	Weak transcription	Hela-S3	cervix
5	chr11:120170800-120175200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:120170800-120175200	Weak transcription	Small Intestine	intestine
7	chr11:120170800-120175800	Weak transcription	A549	lung
8	chr11:120170800-120176200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr11:120170800-120176200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:120171000-120174000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:120171200-120175400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:120172000-120173400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr11:120172000-120177600	Enhancers	Stomach Mucosa	stomach
14	chr11:120172200-120173800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:120172200-120173800	Enhancers	Gastric	stomach
16	chr11:120172200-120173800	Enhancers	Lung	lung
17	chr11:120172200-120174000	Enhancers	Colonic Mucosa	Colon
18	chr11:120172200-120174000	Enhancers	Duodenum Mucosa	Duodenum
19	chr11:120172200-120174200	Enhancers	Esophagus	oesophagus
20	chr11:120172200-120177600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr11:120172400-120173400	Enhancers	Liver	Liver
22	chr11:120172400-120173800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:120172400-120173800	Enhancers	Fetal Intestine Small	intestine
24	chr11:120172400-120173800	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr11:120172400-120178200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:120172600-120173800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr11:120172600-120173800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:120172600-120173800	Enhancers	Pancreas	Pancrea
29	chr11:120172800-120173600	Weak transcription	GM12878-XiMat	blood
30	chr11:120172800-120174000	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr11:120173000-120173600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr11:120173000-120175400	Enhancers	NHEK	skin
33	chr11:120173200-120173400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr11:120173200-120173400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:120173200-120174400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr11:120173200-120176800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:120173200-120181200	Weak transcription	Fetal Intestine Large	intestine

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