Variant report

Variant	rs12785970
Chromosome Location	chr11:100697890-100697891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100694050..100695606-chr11:100697206..100698838,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12792417	0.83[AFR][1000 genomes]
rs17651790	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3858411	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs55864876	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100681200-100698000	Weak transcription	Stomach Mucosa	stomach
2	chr11:100681400-100701000	Weak transcription	HSMM	muscle
3	chr11:100686200-100702800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:100688000-100698600	Weak transcription	NH-A	brain
5	chr11:100688000-100704000	Weak transcription	Right Ventricle	heart
6	chr11:100689000-100698600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:100689200-100698200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:100692200-100698000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:100692800-100698200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:100694200-100698000	Weak transcription	Fetal Heart	heart
11	chr11:100694200-100698000	Weak transcription	Left Ventricle	heart
12	chr11:100694200-100698200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr11:100694200-100698400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:100694400-100701000	Weak transcription	HSMMtube	muscle
15	chr11:100694600-100698600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:100694800-100698200	Weak transcription	NHLF	lung
17	chr11:100695000-100701000	Weak transcription	Psoas Muscle	Psoas
18	chr11:100695200-100698000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:100695200-100698600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:100695400-100698000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:100695400-100698000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:100695600-100698000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr11:100695600-100698000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:100695600-100698600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:100695800-100698000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:100696200-100703000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:100696600-100698000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:100696600-100698200	Weak transcription	A549	lung
29	chr11:100696800-100698000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:100696800-100698000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:100696800-100698000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:100696800-100698000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:100696800-100698000	Weak transcription	Fetal Muscle Leg	muscle
34	chr11:100696800-100698200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:100696800-100698200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr11:100696800-100698600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:100696800-100698600	Weak transcription	Small Intestine	intestine
38	chr11:100696800-100701000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:100696800-100701000	Weak transcription	Brain Anterior Caudate	brain
40	chr11:100696800-100701000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:100696800-100701200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:100696800-100701200	Weak transcription	NHDF-Ad	bronchial
43	chr11:100696800-100704200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:100697000-100698000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:100697000-100698000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:100697000-100698200	Weak transcription	HMEC	breast
47	chr11:100697000-100698600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:100697000-100698600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:100697000-100701400	Weak transcription	Colon Smooth Muscle	Colon
50	chr11:100697000-100701400	Weak transcription	Fetal Stomach	stomach

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