Variant report

Variant	rs62179597
Chromosome Location	chr2:153472736-153472737
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153471594..153474219-chr2:153474436..153476371,2	K562	blood:
2	chr2:153471185..153473579-chr2:153475752..153479734,3	K562	blood:

Variant related genes	Relation type
ENSG00000157827	Chromatin interaction

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

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

rs_ID	r²[population]
rs10048775	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10193713	0.82[AFR][1000 genomes]
rs13413144	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13427289	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2450	0.82[AFR][1000 genomes]
rs4664120	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4664599	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56191709	0.87[EUR][1000 genomes]
rs62179623	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9989874	0.86[AMR][1000 genomes];0.84[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	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
2	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
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153434200-153473600	Weak transcription	Brain Germinal Matrix	brain
2	chr2:153435400-153473200	Weak transcription	Right Ventricle	heart
3	chr2:153438400-153475400	Weak transcription	Pancreas	Pancrea
4	chr2:153443000-153476400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:153451200-153476200	Weak transcription	Gastric	stomach
6	chr2:153451400-153473600	Weak transcription	Aorta	Aorta
7	chr2:153454800-153473600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:153454800-153473600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:153454800-153496600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:153457200-153473200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:153457200-153505000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:153462200-153474800	Weak transcription	Fetal Intestine Small	intestine
13	chr2:153463600-153479600	Strong transcription	Placenta	Placenta
14	chr2:153463800-153502800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:153464000-153479200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:153464000-153502800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:153464600-153480000	Strong transcription	NHEK	skin
18	chr2:153465600-153474000	Weak transcription	Fetal Brain Male	brain
19	chr2:153467200-153504000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:153468000-153474200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:153468000-153480000	Strong transcription	HepG2	liver
22	chr2:153468000-153483200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:153468200-153477800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:153468200-153479400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:153468400-153473200	Weak transcription	Fetal Intestine Large	intestine
26	chr2:153468400-153479200	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:153468600-153479200	Strong transcription	HMEC	breast
28	chr2:153468600-153480400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:153468600-153495800	Weak transcription	Esophagus	oesophagus
30	chr2:153468800-153475000	Weak transcription	Hela-S3	cervix
31	chr2:153468800-153479000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:153468800-153492000	Weak transcription	Liver	Liver
33	chr2:153469000-153473000	Weak transcription	Ovary	ovary
34	chr2:153469000-153473200	Weak transcription	HSMMtube	muscle
35	chr2:153469000-153473400	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:153469000-153473600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr2:153469000-153473800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:153469000-153474200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:153469000-153475600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:153469000-153493800	Weak transcription	Spleen	Spleen
41	chr2:153469000-153496400	Weak transcription	Colonic Mucosa	Colon
42	chr2:153469000-153509800	Weak transcription	Small Intestine	intestine
43	chr2:153469200-153473800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:153469200-153475400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:153469200-153481200	Weak transcription	Right Atrium	heart
46	chr2:153469200-153484400	Weak transcription	Psoas Muscle	Psoas
47	chr2:153469200-153495200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:153469600-153473200	Weak transcription	Fetal Stomach	stomach
49	chr2:153469600-153475400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:153469600-153479400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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