Variant report

Variant	rs61440148
Chromosome Location	chr2:179114794-179114795
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179109388..179113202-chr2:179114202..179117168,4	K562	blood:
2	chr2:179059539..179061742-chr2:179114111..179116745,2	K562	blood:
3	chr2:179110847..179113165-chr2:179114202..179118396,3	K562	blood:
4	chr2:179114503..179117797-chr2:179118067..179122993,4	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs57013457	1.00[AMR][1000 genomes]
rs6433711	1.00[AMR][1000 genomes]
rs73030631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032543	1.00[AMR][1000 genomes]
rs73032545	1.00[AMR][1000 genomes]
rs73032548	1.00[AMR][1000 genomes]
rs73032576	1.00[AMR][1000 genomes]
rs73034341	1.00[AMR][1000 genomes]
rs7563966	1.00[AMR][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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1011423	chr2:179084407-179166160	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179091200-179115000	Weak transcription	Aorta	Aorta
2	chr2:179101000-179115400	Weak transcription	Gastric	stomach
3	chr2:179105400-179120800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:179106600-179115200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:179106800-179115200	Weak transcription	Pancreas	Pancrea
6	chr2:179107200-179115400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:179107200-179116000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:179107400-179115200	Weak transcription	Fetal Lung	lung
9	chr2:179107600-179115000	Weak transcription	Fetal Brain Female	brain
10	chr2:179107600-179115400	Weak transcription	Brain Anterior Caudate	brain
11	chr2:179107800-179123000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:179108400-179115000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:179108400-179115800	Weak transcription	Fetal Brain Male	brain
14	chr2:179109400-179115200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:179111200-179115400	Weak transcription	K562	blood
16	chr2:179111200-179115800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:179111200-179137400	Weak transcription	Right Atrium	heart
18	chr2:179112400-179115000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:179112400-179120400	Weak transcription	Brain Angular Gyrus	brain
20	chr2:179112600-179115200	Weak transcription	Psoas Muscle	Psoas
21	chr2:179112800-179115000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:179112800-179115000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:179112800-179115000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:179112800-179115200	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:179112800-179116400	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:179113000-179115000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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