Variant report

Variant	rs2060007
Chromosome Location	chr11:121162486-121162487
allele	A/T
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	SREBP2	chr11:121162306-121163918	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SC5D	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10790422	0.83[CHB][hapmap];0.89[YRI][hapmap]
rs10790430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10790431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10892718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2115925	0.95[ASN][1000 genomes]
rs4144287	0.84[CHB][hapmap];0.90[YRI][hapmap]
rs4935767	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][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	nsv1042295	chr11:121072853-121177079	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv898424	chr11:121108865-121206354	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv898425	chr11:121115206-121215237	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv898426	chr11:121136604-121206354	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121155600-121162800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:121159400-121162600	Weak transcription	Right Atrium	heart
3	chr11:121162000-121162600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:121162000-121162600	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr11:121162000-121162600	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr11:121162200-121162600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:121162200-121162600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:121162200-121162600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:121162200-121162600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:121162200-121162600	Enhancers	Primary B cells from peripheral blood	blood
11	chr11:121162200-121162600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr11:121162200-121162600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr11:121162200-121162600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:121162200-121162600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr11:121162200-121162600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr11:121162200-121162600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:121162200-121162600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:121162200-121162600	Enhancers	Colonic Mucosa	Colon
19	chr11:121162200-121162600	Enhancers	Fetal Intestine Small	intestine
20	chr11:121162200-121162600	Enhancers	Fetal Kidney	kidney
21	chr11:121162200-121162600	Enhancers	GM12878-XiMat	blood
22	chr11:121162200-121162600	Bivalent Enhancer	HepG2	liver
23	chr11:121162200-121162800	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr11:121162400-121162600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr11:121162400-121162600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr11:121162400-121162600	Enhancers	Primary B cells from cord blood	blood
27	chr11:121162400-121162600	Enhancers	Primary hematopoietic stem cells	blood
28	chr11:121162400-121162600	Enhancers	Brain Cingulate Gyrus	brain
29	chr11:121162400-121162600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr11:121162400-121162600	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr11:121162400-121162600	Enhancers	Fetal Thymus	thymus
32	chr11:121162400-121162600	Enhancers	Dnd41	blood
33	chr11:121162400-121162600	Enhancers	NHEK	skin
34	chr11:121162400-121163000	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr11:121162400-121163200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr11:121162400-121163200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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