Variant report

Variant	rs7819612
Chromosome Location	chr8:126376477-126376478
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: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10099164	0.94[ASN][1000 genomes]
rs10108110	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10808543	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4242368	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871584	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6981550	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6989407	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7000501	0.80[ASN][1000 genomes]
rs7010333	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7015414	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7814083	0.95[ASN][1000 genomes]
rs7818760	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7820471	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7841947	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7844497	0.94[AMR][1000 genomes];0.93[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	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
2	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
3	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:109 , 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	chr8:126358800-126376800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:126361800-126383200	Weak transcription	Psoas Muscle	Psoas
9	chr8:126365000-126379000	Weak transcription	Fetal Brain Male	brain
10	chr8:126365600-126380000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:126365600-126381200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:126365800-126380000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:126367000-126381200	Weak transcription	Fetal Brain Female	brain
14	chr8:126367800-126381800	Weak transcription	HepG2	liver
15	chr8:126368200-126383200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:126369600-126382000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:126370000-126378800	Weak transcription	Stomach Mucosa	stomach
18	chr8:126370000-126381600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:126370200-126380200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:126371200-126381800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:126372600-126381000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:126372600-126381200	Weak transcription	Colon Smooth Muscle	Colon
23	chr8:126372800-126377200	Weak transcription	Ovary	ovary
24	chr8:126372800-126378200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:126372800-126378800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:126372800-126379000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:126372800-126382200	Weak transcription	Fetal Kidney	kidney
28	chr8:126372800-126383000	Weak transcription	Hela-S3	cervix
29	chr8:126372800-126383600	Weak transcription	Liver	Liver
30	chr8:126373000-126376600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:126373000-126381800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr8:126373600-126381000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr8:126374000-126376800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:126374000-126381800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr8:126374200-126379000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr8:126374600-126377600	Enhancers	Primary B cells from peripheral blood	blood
37	chr8:126374600-126380000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:126374800-126378200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr8:126374800-126378400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:126374800-126378800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:126374800-126378800	Weak transcription	Brain Substantia Nigra	brain
42	chr8:126374800-126379800	Weak transcription	Brain Hippocampus Middle	brain
43	chr8:126375000-126377200	Weak transcription	Fetal Muscle Leg	muscle
44	chr8:126375000-126377400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:126375000-126377400	Weak transcription	Thymus	Thymus
46	chr8:126375000-126378800	Weak transcription	Fetal Intestine Large	intestine
47	chr8:126375000-126379400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr8:126375000-126380200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:126375000-126381400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr8:126375000-126381400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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