Variant report

Variant	rs74126485
Chromosome Location	chr1:173967379-173967380
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173966661..173969075-chr1:173990133..173991820,3	MCF-7	breast:
2	chr1:173835569..173838721-chr1:173965548..173969329,3	K562	blood:
3	chr1:173964310..173967666-chr1:173990049..173993050,6	MCF-7	breast:
4	chr1:173791607..173793893-chr1:173965038..173968720,3	K562	blood:
5	chr1:173966978..173969283-chr1:173971302..173973529,3	K562	blood:
6	chr1:173967156..173969283-chr1:173971628..173973529,2	K562	blood:

Variant related genes	Relation type
ENSG00000224977	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000135870	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000117593	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs56317032	1.00[AMR][1000 genomes]
rs60060044	0.91[AFR][1000 genomes]
rs74126489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74126490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74128325	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3692957	chr1:173960747-173967521	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173900000-173968200	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr1:173909800-173974200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:173915600-173977800	Weak transcription	Stomach Mucosa	stomach
4	chr1:173931200-173969800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:173942200-173967400	Weak transcription	Fetal Heart	heart
6	chr1:173942200-173986200	Weak transcription	Fetal Brain Male	brain
7	chr1:173949200-173970600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:173949600-173970600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:173950600-173973400	Weak transcription	Psoas Muscle	Psoas
10	chr1:173952800-173967600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:173953200-173974200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:173958600-173987200	Weak transcription	Gastric	stomach
13	chr1:173960800-173970400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:173962000-173967400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:173962000-173967600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:173962000-173975000	Weak transcription	Right Ventricle	heart
17	chr1:173962000-173988400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:173962200-173967400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:173962200-173967400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:173962200-173967400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:173962200-173968000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr1:173962200-173968600	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:173962200-173969600	Weak transcription	Brain Angular Gyrus	brain
24	chr1:173962200-173969600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:173962200-173970200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:173962200-173970400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:173962200-173970400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:173962200-173970400	Weak transcription	Ovary	ovary
29	chr1:173962200-173970600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:173962200-173972200	Weak transcription	Spleen	Spleen
31	chr1:173962200-173974000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:173962200-173974000	Weak transcription	HSMMtube	muscle
33	chr1:173962200-173974200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:173962200-173974200	Weak transcription	HMEC	breast
35	chr1:173962200-173976600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:173962200-173976800	Weak transcription	NH-A	brain
37	chr1:173962200-173977200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:173962200-173978400	Weak transcription	Colonic Mucosa	Colon
39	chr1:173962200-173978600	Weak transcription	Lung	lung
40	chr1:173962200-173983200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:173962200-173984200	Weak transcription	Primary T cells from cord blood	blood
42	chr1:173962200-173989000	Weak transcription	Fetal Kidney	kidney
43	chr1:173962200-173989600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:173962200-173989600	Weak transcription	Aorta	Aorta
45	chr1:173962200-173989800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:173962200-173990400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:173962400-173967600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:173962400-173968400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr1:173962400-173974000	Weak transcription	Osteobl	bone
50	chr1:173962400-173974200	Weak transcription	HSMM	muscle

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