Variant report

Variant	rs73704952
Chromosome Location	chr8:126376831-126376832
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126373622..126375800-chr8:126376213..126378817,2	MCF-7	breast:
2	chr8:126375605..126377607-chr8:126380197..126382660,2	K562	blood:

Variant related genes	Relation type
ENSG00000156831	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10088674	1.00[AMR][1000 genomes]
rs10090983	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10094940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10100523	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10101223	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104088	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10105662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10111261	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10111919	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10481079	1.00[AMR][1000 genomes]
rs10481154	1.00[AMR][1000 genomes]
rs11994181	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996045	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28502126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28609750	1.00[EUR][1000 genomes]
rs28620783	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28786389	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56704677	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57062304	1.00[EUR][1000 genomes]
rs58585963	1.00[AMR][1000 genomes]
rs7004396	1.00[EUR][1000 genomes]
rs73704922	1.00[AMR][1000 genomes]
rs73704932	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704933	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73704935	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704936	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7840900	1.00[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	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2761467	chr8:126368375-126385095	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126354000-126381200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:126354800-126379800	Weak transcription	Pancreas	Pancrea
3	chr8:126354800-126380400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:126354800-126381600	Weak transcription	Brain Anterior Caudate	brain
5	chr8:126354800-126383200	Weak transcription	Brain Angular Gyrus	brain
6	chr8:126355200-126378800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:126361800-126383200	Weak transcription	Psoas Muscle	Psoas
8	chr8:126365000-126379000	Weak transcription	Fetal Brain Male	brain
9	chr8:126365600-126380000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:126365600-126381200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:126365800-126380000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:126367000-126381200	Weak transcription	Fetal Brain Female	brain
13	chr8:126367800-126381800	Weak transcription	HepG2	liver
14	chr8:126368200-126383200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:126369600-126382000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:126370000-126378800	Weak transcription	Stomach Mucosa	stomach
17	chr8:126370000-126381600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:126370200-126380200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr8:126371200-126381800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:126372600-126381000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:126372600-126381200	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:126372800-126377200	Weak transcription	Ovary	ovary
23	chr8:126372800-126378200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:126372800-126378800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:126372800-126379000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:126372800-126382200	Weak transcription	Fetal Kidney	kidney
27	chr8:126372800-126383000	Weak transcription	Hela-S3	cervix
28	chr8:126372800-126383600	Weak transcription	Liver	Liver
29	chr8:126373000-126381800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr8:126373600-126381000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:126374000-126381800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr8:126374200-126379000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:126374600-126377600	Enhancers	Primary B cells from peripheral blood	blood
34	chr8:126374600-126380000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:126374800-126378200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:126374800-126378400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:126374800-126378800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:126374800-126378800	Weak transcription	Brain Substantia Nigra	brain
39	chr8:126374800-126379800	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:126375000-126377200	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:126375000-126377400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:126375000-126377400	Weak transcription	Thymus	Thymus
43	chr8:126375000-126378800	Weak transcription	Fetal Intestine Large	intestine
44	chr8:126375000-126379400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:126375000-126380200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:126375000-126381400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr8:126375000-126381400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:126375200-126377200	Weak transcription	Fetal Intestine Small	intestine
49	chr8:126375200-126379000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:126375200-126379400	Weak transcription	Rectal Mucosa Donor 31	rectum

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