Variant report

Variant	rs57079864
Chromosome Location	chr11:57190224-57190225
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	chr11:57189022..57190886-chr11:57246954..57249146,2	K562	blood:
2	chr11:57101411..57103656-chr11:57186960..57191212,3	K562	blood:

Variant related genes	Relation type
ENSG00000149136	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3851116	0.86[AFR][1000 genomes]
rs60869579	0.94[AFR][1000 genomes]
rs6591424	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57170200-57191600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:57173000-57192800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:57173200-57191400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:57173200-57191400	Strong transcription	Fetal Thymus	thymus
5	chr11:57174200-57191800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:57174800-57192000	Weak transcription	HSMMtube	muscle
7	chr11:57175600-57191200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:57175600-57191400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:57176000-57192800	Weak transcription	Stomach Mucosa	stomach
10	chr11:57176800-57192800	Weak transcription	Brain Anterior Caudate	brain
11	chr11:57178000-57190400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:57178200-57190400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:57180400-57190600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:57180400-57193400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:57180600-57191200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:57181000-57191200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:57181000-57191800	Strong transcription	Fetal Stomach	stomach
18	chr11:57182600-57191600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:57182800-57193000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr11:57183000-57192800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:57184400-57191400	Weak transcription	Right Atrium	heart
22	chr11:57184600-57192400	Weak transcription	Aorta	Aorta
23	chr11:57185000-57191200	Strong transcription	Stomach Smooth Muscle	stomach
24	chr11:57185000-57191400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr11:57185000-57191600	Weak transcription	Placenta	Placenta
26	chr11:57185000-57192400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:57185200-57191400	Weak transcription	Right Ventricle	heart
28	chr11:57185200-57193600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:57185400-57191400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr11:57185400-57191600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:57185400-57191600	Weak transcription	Brain Hippocampus Middle	brain
32	chr11:57185400-57191600	Weak transcription	Brain Substantia Nigra	brain
33	chr11:57185400-57191600	Weak transcription	Fetal Brain Male	brain
34	chr11:57185400-57191800	Weak transcription	NH-A	brain
35	chr11:57185400-57192200	Weak transcription	A549	lung
36	chr11:57185600-57191400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr11:57185600-57191800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:57185600-57192000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:57185600-57193600	Weak transcription	Fetal Kidney	kidney
40	chr11:57185600-57193800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:57185800-57191400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr11:57185800-57191600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:57185800-57191600	Weak transcription	Fetal Brain Female	brain
44	chr11:57185800-57191600	Weak transcription	Pancreas	Pancrea
45	chr11:57185800-57192800	Weak transcription	Psoas Muscle	Psoas
46	chr11:57186000-57191000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr11:57186000-57191200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr11:57186000-57191600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr11:57186000-57193600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr11:57186000-57194000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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