Variant report

Variant	rs17695665
Chromosome Location	chr2:179075673-179075674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179073555..179076011-chr2:179081432..179084304,2	K562	blood:
2	chr2:179061327..179064018-chr2:179074389..179076022,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs334025	1.00[CEU][hapmap]
rs334036	0.82[CEU][hapmap]
rs55923346	0.84[EUR][1000 genomes]
rs55937235	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58922071	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60829693	0.87[ASN][1000 genomes]
rs62177188	0.87[ASN][1000 genomes]
rs62177210	0.87[ASN][1000 genomes]
rs62177215	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177216	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177223	0.84[EUR][1000 genomes]
rs62177224	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177225	0.95[AMR][1000 genomes];0.91[EUR][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	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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179060800-179076200	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:179070000-179076400	Weak transcription	Right Atrium	heart
3	chr2:179070200-179075800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:179070200-179076200	Weak transcription	Brain Angular Gyrus	brain
5	chr2:179070200-179076400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:179070400-179075800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:179070600-179075800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:179070600-179076000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:179070800-179077200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:179071000-179076600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:179071200-179075800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:179071400-179078000	Weak transcription	HMEC	breast
13	chr2:179072000-179075800	Weak transcription	K562	blood
14	chr2:179072000-179078000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:179074000-179077800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:179074200-179076200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
17	chr2:179074800-179076600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:179075000-179076800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:179075200-179076000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:179075200-179076400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:179075200-179079000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:179075400-179076600	Enhancers	Psoas Muscle	Psoas
23	chr2:179075600-179076600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr2:179075600-179076800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr2:179075600-179077000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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