Variant report

Variant	rs60689957
Chromosome Location	chr1:173973932-173973933
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173967626..173970075-chr1:173971357..173973952,2	MCF-7	breast:
2	chr1:173969540..173974607-chr1:173987026..173993006,8	MCF-7	breast:
3	chr1:173971026..173973965-chr1:173986548..173989476,2	K562	blood:

Variant related genes	Relation type
ENSG00000135870	Chromatin interaction
ENSG00000224977	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16846526	0.83[AMR][1000 genomes]
rs16846593	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2065170	0.83[AMR][1000 genomes]
rs2146372	0.88[AMR][1000 genomes]
rs2227589	0.88[AMR][1000 genomes]
rs2227592	0.88[AMR][1000 genomes]
rs2759328	0.88[AMR][1000 genomes]
rs58174255	0.95[ASN][1000 genomes]
rs58911640	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59393482	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6685043	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7516351	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7521960	0.91[ASN][1000 genomes]
rs941988	0.88[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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv916960	chr1:173907804-174080248	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv872551	chr1:173913804-174025660	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv831937	chr1:173949373-174131463	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173909800-173974200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:173915600-173977800	Weak transcription	Stomach Mucosa	stomach
3	chr1:173942200-173986200	Weak transcription	Fetal Brain Male	brain
4	chr1:173953200-173974200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:173958600-173987200	Weak transcription	Gastric	stomach
6	chr1:173962000-173975000	Weak transcription	Right Ventricle	heart
7	chr1:173962000-173988400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:173962200-173974000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:173962200-173974000	Weak transcription	HSMMtube	muscle
10	chr1:173962200-173974200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:173962200-173974200	Weak transcription	HMEC	breast
12	chr1:173962200-173976600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:173962200-173976800	Weak transcription	NH-A	brain
14	chr1:173962200-173977200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:173962200-173978400	Weak transcription	Colonic Mucosa	Colon
16	chr1:173962200-173978600	Weak transcription	Lung	lung
17	chr1:173962200-173983200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:173962200-173984200	Weak transcription	Primary T cells from cord blood	blood
19	chr1:173962200-173989000	Weak transcription	Fetal Kidney	kidney
20	chr1:173962200-173989600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:173962200-173989600	Weak transcription	Aorta	Aorta
22	chr1:173962200-173989800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:173962200-173990400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:173962400-173974000	Weak transcription	Osteobl	bone
25	chr1:173962400-173974200	Weak transcription	HSMM	muscle
26	chr1:173962400-173974200	Weak transcription	NHEK	skin
27	chr1:173962400-173977400	Weak transcription	Hela-S3	cervix
28	chr1:173962400-173987800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:173962600-173974600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:173962600-173986000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:173962600-173988400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:173962600-173988600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:173962600-173989400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:173962800-173989800	Weak transcription	Placenta	Placenta
35	chr1:173963600-173974000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:173963800-173975000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:173965000-173974200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:173965000-173989600	Weak transcription	Fetal Thymus	thymus
39	chr1:173965200-173986600	Weak transcription	HUVEC	blood vessel
40	chr1:173966200-173977600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr1:173966200-173981000	Weak transcription	Pancreas	Pancrea
42	chr1:173966200-173986200	Weak transcription	Fetal Brain Female	brain
43	chr1:173966200-173989800	Weak transcription	Fetal Muscle Leg	muscle
44	chr1:173966400-173974000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr1:173966400-173974000	Weak transcription	Right Atrium	heart
46	chr1:173966400-173974200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:173966400-173974200	Weak transcription	Dnd41	blood
48	chr1:173966400-173974600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:173966400-173976600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:173966400-173976600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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