Variant report

Variant	rs794251
Chromosome Location	chr6:119348601-119348602
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	chr6:119254679..119257709-chr6:119345314..119348815,3	K562	blood:
2	chr6:119346161..119349573-chr6:119350909..119353024,3	K562	blood:

Variant related genes	Relation type
ENSG00000253194	Chromatin interaction
ENSG00000111877	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1775613	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1775616	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1775620	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1889561	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066408	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357021	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357023	1.00[ASN][1000 genomes]
rs2782573	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2797356	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756939	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7738420	1.00[ASN][1000 genomes]
rs794249	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794257	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9398496	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489577	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030400	chr6:119320153-119433830	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119314400-119364400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:119325400-119349600	Weak transcription	Brain Angular Gyrus	brain
3	chr6:119328600-119348800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:119331400-119349800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr6:119331400-119356000	Weak transcription	Ovary	ovary
6	chr6:119331600-119349200	Weak transcription	Adipose Nuclei	Adipose
7	chr6:119331600-119355800	Weak transcription	K562	blood
8	chr6:119334200-119355800	Weak transcription	Brain Hippocampus Middle	brain
9	chr6:119339400-119356200	Weak transcription	Placenta	Placenta
10	chr6:119341400-119356200	Weak transcription	Fetal Stomach	stomach
11	chr6:119343400-119356400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:119343600-119355800	Weak transcription	Fetal Intestine Small	intestine
13	chr6:119343800-119349800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr6:119345200-119349200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr6:119345200-119350400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:119345800-119349600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr6:119345800-119350200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr6:119346000-119350000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:119346200-119349000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr6:119346600-119349800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr6:119346600-119350000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:119347000-119349000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:119347000-119349400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr6:119347000-119349600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:119347400-119356400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:119347800-119349400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:119347800-119356000	Weak transcription	Fetal Muscle Leg	muscle
28	chr6:119348000-119350200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr6:119348200-119348800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr6:119348400-119349200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr6:119348600-119349200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr6:119348600-119349400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:119348600-119349800	Enhancers	HUVEC	blood vessel

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