Variant report

Variant	rs6470344
Chromosome Location	chr8:126235722-126235723
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126233325..126236985-chr8:126441362..126443873,3	MCF-7	breast:
2	chr8:126229542..126240931-chr8:126439455..126445268,19	MCF-7	breast:
3	chr8:126233908..126235977-chr8:126236439..126238651,2	MCF-7	breast:
4	chr8:126231336..126233903-chr8:126235720..126238496,3	MCF-7	breast:
5	chr8:126235461..126238167-chr8:126248077..126250279,2	K562	blood:
6	chr8:126233946..126236339-chr8:126236823..126239784,3	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10094316	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10100556	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10112218	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11986135	0.92[ASN][1000 genomes]
rs2384859	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2891630	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4870935	0.92[ASN][1000 genomes]
rs5007394	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470338	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470339	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470342	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470343	0.86[AMR][1000 genomes]
rs6995096	0.92[ASN][1000 genomes]
rs7000553	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7813225	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7816430	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7817794	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7836427	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	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
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv1034798	chr8:126179383-126241525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126201600-126236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:126202600-126237400	Weak transcription	Fetal Thymus	thymus
3	chr8:126204400-126238600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:126204400-126239600	Weak transcription	Primary T cells from cord blood	blood
5	chr8:126214400-126237400	Weak transcription	Thymus	Thymus
6	chr8:126214400-126238600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:126217400-126238600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:126226800-126238600	Weak transcription	Spleen	Spleen
9	chr8:126226800-126260200	Weak transcription	Right Ventricle	heart
10	chr8:126229800-126239800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:126230000-126238600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:126230000-126240000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr8:126231600-126238600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:126231800-126237200	Weak transcription	Brain Substantia Nigra	brain
15	chr8:126231800-126239000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr8:126232400-126236400	Weak transcription	Brain Anterior Caudate	brain
17	chr8:126232400-126236600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:126232400-126237000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr8:126232400-126237000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr8:126232400-126237200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:126232400-126237200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr8:126232400-126237400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:126232600-126237000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:126232600-126237200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr8:126232600-126237400	Weak transcription	Aorta	Aorta
26	chr8:126232600-126237400	Weak transcription	Brain Angular Gyrus	brain
27	chr8:126232600-126237400	Weak transcription	Fetal Kidney	kidney
28	chr8:126232600-126238400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr8:126232800-126238400	Weak transcription	Fetal Brain Male	brain
30	chr8:126233000-126236800	Weak transcription	Primary B cells from cord blood	blood
31	chr8:126233000-126237200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:126233200-126235800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:126233200-126237200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr8:126233400-126236200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:126233400-126236200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr8:126233400-126236400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:126233400-126236800	Weak transcription	Brain Hippocampus Middle	brain
38	chr8:126233400-126237000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr8:126233400-126237400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:126233400-126238600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr8:126233400-126238800	Weak transcription	Colonic Mucosa	Colon
42	chr8:126233600-126235800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr8:126233600-126236400	Weak transcription	Liver	Liver
44	chr8:126233600-126237000	Weak transcription	Fetal Lung	lung
45	chr8:126233600-126237000	Weak transcription	Small Intestine	intestine
46	chr8:126233600-126237000	Weak transcription	Stomach Mucosa	stomach
47	chr8:126233600-126237200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:126233600-126237400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:126233600-126237400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:126233600-126237400	Weak transcription	Fetal Muscle Leg	muscle

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