Variant report

Variant	rs2305984
Chromosome Location	chr11:47869855-47869856
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47869268..47869874-chr3:150264298..150265208,2	NB4	blood:
2	chr11:47734421..47738084-chr11:47868728..47871724,4	K562	blood:
3	chr11:47869589..47870448-chr3:128206698..128207411,2	Hela-S3	cervix:
4	chr11:47787394..47789838-chr11:47868299..47871448,5	MCF-7	breast:
5	chr11:47597915..47601799-chr11:47868286..47871887,4	K562	blood:
6	chr11:47869654..47870434-chr6:106773140..106773649,2	Hela-S3	cervix:
7	chr11:47869483..47870186-chr3:150125929..150126438,2	HCT-116	colon:
8	chr11:47787149..47790720-chr11:47868235..47871590,6	MCF-7	breast:
9	chr11:47869821..47870379-chr7:5569438..5570409,2	Hela-S3	cervix:
10	chr11:47869561..47870247-chr16:88636617..88637521,2	Hela-S3	cervix:
11	chr1:28832502..28833185-chr11:47869116..47869923,2	Hela-S3	cervix:
12	chr11:47869535..47870067-chr12:29533757..29534605,2	HCT-116	colon:
13	chr11:47869135..47869925-chr17:6917768..6918393,2	Hela-S3	cervix:
14	chr11:47788106..47790225-chr11:47868385..47869954,2	K562	blood:
15	chr11:47735300..47737622-chr11:47868024..47869979,2	MCF-7	breast:
16	chr11:47869648..47870294-chr3:52570367..52571073,2	HCT-116	colon:

No data

Variant related genes	Relation type
ENSG00000168273	Chromatin interaction
ENSG00000144895	Chromatin interaction
ENSG00000231880	Chromatin interaction
ENSG00000057663	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000180198	Chromatin interaction
ENSG00000242125	Chromatin interaction
ENSG00000087502	Chromatin interaction
ENSG00000200376	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000158545	Chromatin interaction
ENSG00000165923	Chromatin interaction
ENSG00000179348	Chromatin interaction
ENSG00000123444	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000258315	Chromatin interaction
ENSG00000109920	Chromatin interaction
ENSG00000196428	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11039407	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs731706	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
4	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv1049835	chr11:47837089-47928822	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv541036	chr11:47837089-47928822	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2305984	FZD7	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47868200-47870400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr11:47868600-47870800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:47868600-47870800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:47868800-47870600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr11:47868800-47870800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr11:47868800-47870800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:47868800-47870800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:47868800-47870800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:47868800-47870800	Active TSS	Right Atrium	heart
10	chr11:47868800-47871000	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr11:47869000-47870400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:47869000-47870400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:47869000-47870400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:47869000-47870400	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr11:47869000-47870400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:47869000-47870400	Active TSS	Fetal Intestine Small	intestine
17	chr11:47869000-47870400	Active TSS	Psoas Muscle	Psoas
18	chr11:47869000-47870400	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr11:47869000-47870400	Active TSS	Right Ventricle	heart
20	chr11:47869000-47870400	Active TSS	K562	blood
21	chr11:47869000-47870400	Active TSS	NHDF-Ad	bronchial
22	chr11:47869000-47870600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:47869000-47870600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:47869000-47870600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:47869000-47870600	Active TSS	Fetal Intestine Large	intestine
26	chr11:47869000-47870600	Active TSS	GM12878-XiMat	blood
27	chr11:47869000-47871000	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr11:47869000-47871000	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr11:47869200-47870200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:47869200-47870200	Active TSS	Fetal Thymus	thymus
31	chr11:47869200-47870200	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr11:47869200-47870200	Active TSS	Dnd41	blood
33	chr11:47869200-47870200	Active TSS	Hela-S3	cervix
34	chr11:47869200-47870400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:47869200-47870400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:47869200-47870400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:47869200-47870400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:47869200-47870400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:47869200-47870400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:47869200-47870400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:47869200-47870400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr11:47869200-47870400	Active TSS	Muscle Satellite Cultured Cells	--
43	chr11:47869200-47870400	Active TSS	Brain Angular Gyrus	brain
44	chr11:47869200-47870400	Active TSS	Brain Cingulate Gyrus	brain
45	chr11:47869200-47870400	Active TSS	Brain Hippocampus Middle	brain
46	chr11:47869200-47870400	Active TSS	Brain Substantia Nigra	brain
47	chr11:47869200-47870400	Active TSS	Colonic Mucosa	Colon
48	chr11:47869200-47870400	Active TSS	Colon Smooth Muscle	Colon
49	chr11:47869200-47870400	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr11:47869200-47870400	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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