Variant report

Variant	rs7949845
Chromosome Location	chr11:71731723-71731724
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71731547..71734239-chr11:71803946..71807836,4	K562	blood:
2	chr11:71730523..71734106-chr11:71748268..71752089,4	MCF-7	breast:
3	chr11:71730569..71733682-chr11:71733704..71737647,4	K562	blood:
4	chr11:71725274..71727322-chr11:71730731..71732692,2	MCF-7	breast:
5	chr11:71724703..71727055-chr11:71729098..71732099,3	K562	blood:
6	chr11:71719750..71724026-chr11:71727907..71732145,4	K562	blood:
7	chr11:71731142..71733326-chr11:71799543..71802275,2	K562	blood:
8	chr11:71716951..71722759-chr11:71729392..71732311,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184154	Chromatin interaction
ENSG00000251143	Chromatin interaction
ENSG00000137497	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10400327	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1892922	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2096784	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57198333	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743667	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743673	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743683	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743684	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58109845	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58569034	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58860532	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58986282	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59603657	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59704482	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60401386	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60840528	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61225837	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7102392	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110215	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7925196	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945535	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71677200-71736600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:71705400-71734400	Strong transcription	Fetal Intestine Small	intestine
3	chr11:71709600-71737000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:71709800-71735800	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:71709800-71736600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:71709800-71748000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:71710200-71735600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:71710600-71735800	Strong transcription	Brain Germinal Matrix	brain
9	chr11:71710600-71736000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:71710800-71734200	Strong transcription	Fetal Intestine Large	intestine
11	chr11:71710800-71734800	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr11:71710800-71735600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:71710800-71735800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:71710800-71743200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:71710800-71748000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:71711000-71735800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:71711000-71736600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:71711000-71741800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:71711000-71748800	Strong transcription	Dnd41	blood
20	chr11:71711200-71742400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr11:71711400-71735800	Strong transcription	Osteobl	bone
22	chr11:71711400-71736400	Strong transcription	GM12878-XiMat	blood
23	chr11:71711400-71747600	Strong transcription	Fetal Thymus	thymus
24	chr11:71711600-71735200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr11:71711600-71735600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:71711600-71735800	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr11:71711600-71736400	Strong transcription	Primary T cells from cord blood	blood
28	chr11:71711600-71736600	Strong transcription	Fetal Lung	lung
29	chr11:71711600-71747800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:71711800-71735800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:71711800-71736400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr11:71711800-71736400	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr11:71711800-71736400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr11:71711800-71736600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr11:71711800-71737800	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:71711800-71742800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:71711800-71743200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr11:71711800-71744200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr11:71712000-71735800	Strong transcription	Primary B cells from cord blood	blood
40	chr11:71712200-71735800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:71712400-71735600	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr11:71712400-71736000	Strong transcription	Aorta	Aorta
43	chr11:71712400-71736400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:71712600-71735600	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr11:71712600-71735800	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr11:71712600-71736400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:71712800-71736000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:71712800-71741000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:71713000-71735200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:71713000-71735800	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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