Variant report

Variant	rs10179385
Chromosome Location	chr2:153288972-153288973
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	chr2:153288374..153290772-chr2:153291020..153293093,2	K562	blood:
2	chr2:153279392..153282139-chr2:153288134..153290095,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11901392	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34968716	0.96[EUR][1000 genomes]
rs59483741	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61549674	0.97[EUR][1000 genomes]
rs7586834	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7600624	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153278400-153289800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:153278800-153290600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:153278800-153291200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:153280000-153305200	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:153281600-153291600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:153282600-153304400	Enhancers	Brain Anterior Caudate	brain
7	chr2:153283600-153289400	Weak transcription	Pancreas	Pancrea
8	chr2:153284200-153291600	Enhancers	Brain Angular Gyrus	brain
9	chr2:153285000-153290800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:153285400-153289000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:153285600-153290000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:153285800-153289200	Enhancers	Fetal Kidney	kidney
13	chr2:153285800-153292200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:153286000-153289200	Weak transcription	Psoas Muscle	Psoas
15	chr2:153286200-153290200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:153286200-153291600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr2:153286200-153301000	Enhancers	Brain Hippocampus Middle	brain
18	chr2:153286400-153289400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:153286400-153291800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:153286400-153305200	Enhancers	Brain Substantia Nigra	brain
21	chr2:153287200-153290000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:153287400-153289400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:153287400-153290800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:153287400-153291200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:153287400-153291400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:153287400-153291400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:153287600-153289200	Enhancers	Fetal Brain Male	brain
28	chr2:153287600-153291000	Enhancers	Hela-S3	cervix
29	chr2:153287600-153291200	Enhancers	Adipose Nuclei	Adipose
30	chr2:153287600-153291400	Enhancers	Fetal Stomach	stomach
31	chr2:153287600-153291800	Enhancers	HepG2	liver
32	chr2:153287800-153289600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:153287800-153291200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr2:153287800-153291200	Enhancers	Colon Smooth Muscle	Colon
35	chr2:153288000-153289600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr2:153288000-153289600	Enhancers	HMEC	breast
37	chr2:153288000-153289600	Enhancers	Osteobl	bone
38	chr2:153288000-153290200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:153288000-153291200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:153288000-153291400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:153288000-153291600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr2:153288000-153292000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:153288200-153289600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:153288200-153289600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:153288200-153289600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:153288200-153289600	Enhancers	Placenta	Placenta
47	chr2:153288200-153289600	Enhancers	Spleen	Spleen
48	chr2:153288200-153290200	Enhancers	Fetal Muscle Leg	muscle
49	chr2:153288200-153290200	Enhancers	Right Atrium	heart
50	chr2:153288200-153290200	Enhancers	Stomach Smooth Muscle	stomach

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