Variant report

Variant	rs2124291
Chromosome Location	chr6:14866884-14866885
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:14864567..14867546-chr6:15247170..15248965,2	K562	blood:
2	chr6:14865443..14867040-chr6:15243650..15246331,2	K562	blood:

Variant related genes	Relation type
ENSG00000235488	Chromatin interaction
ENSG00000271888	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10949261	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12190539	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12374664	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1258993	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16875782	0.80[EUR][1000 genomes]
rs16875788	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16875810	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2168315	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs373633	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs387877	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs389438	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs394849	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs403392	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs410494	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs423468	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs425233	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs443427	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs52875	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62390307	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62390308	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62390309	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62390310	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62390312	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62390313	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62390314	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62390316	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62390318	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62390319	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62390320	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62390321	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6912084	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6912613	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72826859	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72826868	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72826874	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72826878	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9476670	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9476671	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9476672	0.89[EUR][1000 genomes];0.94[ASN][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	nsv1031668	chr6:14774036-15044308	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv538138	chr6:14774036-15044308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1017572	chr6:14830510-14906933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14863600-14868400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr6:14864200-14867400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:14864600-14867400	Enhancers	Primary B cells from cord blood	blood
4	chr6:14864800-14874600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:14864800-14880600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:14865000-14870200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:14865000-14874400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:14865400-14867400	Enhancers	Primary B cells from peripheral blood	blood
9	chr6:14865600-14867000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr6:14866000-14868000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr6:14866000-14870400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:14866200-14870200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr6:14866200-14875400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:14866400-14867600	Weak transcription	K562	blood
15	chr6:14866400-14870000	Weak transcription	HSMMtube	muscle
16	chr6:14866400-14873000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr6:14866400-14873000	Weak transcription	Primary T cells from cord blood	blood
18	chr6:14866600-14869600	Weak transcription	Fetal Thymus	thymus
19	chr6:14866600-14870000	Weak transcription	Thymus	Thymus
20	chr6:14866600-14871200	Weak transcription	Fetal Muscle Leg	muscle
21	chr6:14866600-14871400	Weak transcription	Fetal Lung	lung
22	chr6:14866600-14872800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:14866600-14874400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr6:14866600-14874400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:14866600-14874600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:14866600-14880400	Weak transcription	Spleen	Spleen
27	chr6:14866800-14868400	Enhancers	Primary neutrophils fromperipheralblood	blood

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