Variant report

Variant	rs73003366
Chromosome Location	chr6:143919113-143919114
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:143916961..143919434-chr6:143921245..143924950,3	K562	blood:
2	chr6:143911987..143913949-chr6:143918045..143919572,2	MCF-7	breast:
3	chr6:143917132..143921023-chr6:143928488..143932681,3	K562	blood:

Variant related genes	Relation type
ENSG00000112419	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10214882	0.81[EUR][1000 genomes]
rs10457749	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10484802	0.81[EUR][1000 genomes]
rs12190134	0.82[EUR][1000 genomes]
rs12191296	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12191485	0.81[EUR][1000 genomes]
rs12196002	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12199016	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203367	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204876	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12205130	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12205256	0.80[EUR][1000 genomes]
rs12206116	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12208244	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210250	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212759	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12213878	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12216096	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1416209	0.90[ASN][1000 genomes]
rs17368239	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17368267	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027280	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4142502	0.82[EUR][1000 genomes]
rs55854171	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58388072	0.81[EUR][1000 genomes]
rs6919613	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72995603	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73005383	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7744771	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749314	0.82[EUR][1000 genomes]
rs7751857	0.90[ASN][1000 genomes]
rs9321924	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9321928	0.83[EUR][1000 genomes]
rs9321929	0.82[EUR][1000 genomes]
rs9321930	0.81[EUR][1000 genomes]
rs9399450	0.82[EUR][1000 genomes]
rs9403513	0.80[EUR][1000 genomes]
rs9484777	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9496663	0.82[EUR][1000 genomes]
rs9496677	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9496688	0.82[EUR][1000 genomes]
rs9496692	0.82[EUR][1000 genomes]
rs9496694	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758084	chr6:143916621-144079976	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759476	chr6:143916621-144079976	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143899800-143919200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr6:143911200-143929200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:143913200-143928400	Weak transcription	Aorta	Aorta
4	chr6:143914800-143919400	Weak transcription	Stomach Mucosa	stomach
5	chr6:143916000-143919400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:143917000-143920200	Enhancers	Placenta	Placenta
7	chr6:143917000-143973600	Weak transcription	Fetal Intestine Small	intestine
8	chr6:143917200-143929000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:143917200-143941400	Weak transcription	Fetal Intestine Large	intestine
10	chr6:143918000-143919200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:143918000-143919600	Enhancers	Primary hematopoietic stem cells	blood
12	chr6:143918000-143920000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:143918200-143919600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:143918200-143919800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:143918200-143920000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr6:143918200-143920000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:143918200-143920600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:143918200-143929200	Weak transcription	Lung	lung
19	chr6:143918400-143919200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:143918400-143919400	Weak transcription	Spleen	Spleen
21	chr6:143918400-143920000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:143918400-143921200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:143918400-143921200	Weak transcription	Left Ventricle	heart
24	chr6:143918400-143922800	Weak transcription	Fetal Muscle Leg	muscle
25	chr6:143918600-143919200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:143918600-143919200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:143918600-143919600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr6:143918600-143920000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr6:143918600-143920200	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr6:143918600-143920200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:143918800-143919400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr6:143918800-143919400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr6:143919000-143919400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:143919000-143919400	Weak transcription	Adipose Nuclei	Adipose
35	chr6:143919000-143920200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr6:143919000-143920200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr6:143919000-143920200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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