Variant report

Variant	rs60474927
Chromosome Location	chr8:126195360-126195361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126155085..126158836-chr8:126194107..126197268,3	MCF-7	breast:
2	chr8:126194440..126196761-chr8:126440520..126442418,2	MCF-7	breast:
3	chr8:126163871..126166452-chr8:126194576..126197466,2	K562	blood:
4	chr8:126188966..126191727-chr8:126193252..126196746,4	MCF-7	breast:
5	chr8:126192261..126195990-chr8:126441840..126444938,4	K562	blood:
6	chr8:126191466..126196398-chr8:126202580..126205039,4	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10097806	1.00[AMR][1000 genomes]
rs10105823	1.00[AMR][1000 genomes]
rs10106955	1.00[AMR][1000 genomes]
rs10107980	1.00[AMR][1000 genomes]
rs2384877	0.97[AFR][1000 genomes]
rs73348190	0.97[AFR][1000 genomes]
rs73349892	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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv1034798	chr8:126179383-126241525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
2	chr8:126138000-126197800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr8:126138200-126200400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:126138400-126200200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:126156600-126199800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:126166000-126200200	Weak transcription	Dnd41	blood
8	chr8:126167000-126200400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:126170600-126200600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:126171000-126199200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:126172000-126201000	Weak transcription	Fetal Thymus	thymus
12	chr8:126176200-126200400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr8:126179200-126195800	Weak transcription	Esophagus	oesophagus
14	chr8:126179400-126208800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:126181800-126200600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr8:126182000-126217600	Weak transcription	Fetal Kidney	kidney
17	chr8:126182400-126201000	Weak transcription	HepG2	liver
18	chr8:126184000-126200400	Weak transcription	Primary T cells from cord blood	blood
19	chr8:126187400-126204000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:126187600-126198800	Weak transcription	Gastric	stomach
21	chr8:126187600-126200400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr8:126187600-126200400	Weak transcription	Psoas Muscle	Psoas
23	chr8:126187600-126201000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:126187800-126195400	Weak transcription	Adipose Nuclei	Adipose
25	chr8:126187800-126202400	Weak transcription	HSMM	muscle
26	chr8:126188000-126200200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:126188000-126200600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:126188000-126200800	Weak transcription	A549	lung
29	chr8:126188000-126201000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:126188200-126200600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:126188400-126200400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:126188400-126200600	Weak transcription	Colon Smooth Muscle	Colon
33	chr8:126188600-126195600	Weak transcription	Fetal Lung	lung
34	chr8:126188600-126195800	Weak transcription	Stomach Mucosa	stomach
35	chr8:126188600-126199400	Weak transcription	GM12878-XiMat	blood
36	chr8:126188600-126199600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr8:126188600-126200200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr8:126188600-126201200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr8:126189000-126201200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr8:126189200-126199600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr8:126189200-126200400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:126189200-126203600	Weak transcription	Small Intestine	intestine
43	chr8:126189200-126204400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:126189400-126197000	Weak transcription	Fetal Intestine Small	intestine
45	chr8:126189400-126200200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:126189800-126198800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:126189800-126200400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:126190000-126200400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr8:126190200-126201000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:126190400-126200400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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