Variant report

Variant	rs4243949
Chromosome Location	chr11:9648721-9648722
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9633888..9638474-chr11:9645827..9648910,5	K562	blood:
2	chr11:9647120..9648829-chr11:9667561..9670506,2	MCF-7	breast:
3	chr11:9639664..9642964-chr11:9645191..9649077,5	K562	blood:
4	chr11:9633888..9637224-chr11:9645529..9649937,4	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10743113	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10770049	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10770050	0.82[AFR][1000 genomes]
rs1865557	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2099465	0.81[CHB][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7104787	1.00[EUR][1000 genomes]
rs7111053	1.00[EUR][1000 genomes]
rs7112156	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7113314	1.00[EUR][1000 genomes]
rs7123629	1.00[CEU][hapmap];0.81[CHB][hapmap];0.92[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv896986	chr11:9636854-9679145	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS 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 target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9646400-9649200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr11:9646800-9649400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:9646800-9649400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:9646800-9650600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr11:9646800-9650600	Enhancers	GM12878-XiMat	blood
6	chr11:9647400-9648800	Enhancers	Right Atrium	heart
7	chr11:9647400-9649000	Enhancers	K562	blood
8	chr11:9647400-9649400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:9647600-9649600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:9647600-9650400	Weak transcription	Spleen	Spleen
11	chr11:9647600-9652400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr11:9647800-9649200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:9647800-9652200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr11:9647800-9654800	Weak transcription	Primary B cells from cord blood	blood
15	chr11:9648000-9648800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr11:9648000-9648800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:9648000-9648800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr11:9648000-9649000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:9648000-9649000	Flanking Active TSS	HUVEC	blood vessel
20	chr11:9648000-9649000	Enhancers	NHDF-Ad	bronchial
21	chr11:9648000-9649200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr11:9648200-9648800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:9648200-9648800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr11:9648200-9649000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:9648200-9649000	Enhancers	Fetal Muscle Leg	muscle
26	chr11:9648200-9649200	Enhancers	Lung	lung
27	chr11:9648200-9649400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr11:9648400-9648800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr11:9648400-9648800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:9648400-9648800	Enhancers	Placenta	Placenta
31	chr11:9648400-9648800	Enhancers	HSMM	muscle
32	chr11:9648400-9648800	Flanking Active TSS	HSMMtube	muscle
33	chr11:9648400-9649000	Enhancers	Osteobl	bone
34	chr11:9648400-9650400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:9648400-9650600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:9648600-9648800	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr11:9648600-9648800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:9648600-9648800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:9648600-9648800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:9648600-9648800	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr11:9648600-9648800	Enhancers	Brain Cingulate Gyrus	brain
42	chr11:9648600-9649000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr11:9648600-9649800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr11:9648600-9650600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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