Variant report

Variant	rs4481615
Chromosome Location	chr8:126230659-126230660
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126230421..126233319-chr8:126238553..126242125,3	MCF-7	breast:
2	chr8:126229542..126240931-chr8:126439455..126445268,19	MCF-7	breast:
3	chr8:126229898..126232632-chr8:126442364..126444090,4	MCF-7	breast:
4	chr8:126225448..126228099-chr8:126228742..126231681,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12056336	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12679295	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681565	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12682185	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16900457	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55839055	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56326134	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57252921	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57905807	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58179901	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58383711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58805022	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59056247	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984988	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6988747	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992545	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997136	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997418	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6997658	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997862	0.83[ASN][1000 genomes]
rs7002224	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014707	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015295	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7017497	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348122	0.83[ASN][1000 genomes]
rs73348148	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73348187	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73349893	1.00[ASN][1000 genomes]
rs73351205	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73351208	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73704543	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73704549	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73704556	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822618	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823372	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827336	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833107	0.83[ASN][1000 genomes]
rs7833463	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837996	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7839274	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844453	0.83[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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:126201600-126231200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:126201600-126231600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:126201600-126236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:126202200-126232200	Weak transcription	Primary B cells from cord blood	blood
6	chr8:126202600-126237400	Weak transcription	Fetal Thymus	thymus
7	chr8:126202800-126231600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr8:126203200-126231400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:126203800-126231000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr8:126204200-126231000	Weak transcription	Brain Angular Gyrus	brain
11	chr8:126204200-126231200	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:126204400-126238600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:126204400-126239600	Weak transcription	Primary T cells from cord blood	blood
14	chr8:126205200-126231200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:126214400-126237400	Weak transcription	Thymus	Thymus
16	chr8:126214400-126238600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:126214600-126230800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:126214600-126231200	Weak transcription	Fetal Lung	lung
19	chr8:126214600-126231400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:126217400-126238600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:126218000-126231600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:126220200-126231400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:126220400-126231000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:126220400-126231200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr8:126222800-126231200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:126226600-126231000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:126226600-126231000	Weak transcription	Fetal Kidney	kidney
28	chr8:126226600-126231200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:126226600-126231200	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:126226600-126235000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:126226800-126230800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:126226800-126230800	Weak transcription	Osteobl	bone
33	chr8:126226800-126231000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:126226800-126231000	Weak transcription	Adipose Nuclei	Adipose
35	chr8:126226800-126231000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:126226800-126231000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr8:126226800-126231000	Weak transcription	HSMMtube	muscle
38	chr8:126226800-126231200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr8:126226800-126231200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:126226800-126231200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr8:126226800-126231200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:126226800-126231200	Weak transcription	K562	blood
43	chr8:126226800-126231400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:126226800-126231400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:126226800-126231400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:126226800-126231400	Weak transcription	Fetal Stomach	stomach
47	chr8:126226800-126231400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr8:126226800-126231600	Weak transcription	Small Intestine	intestine
49	chr8:126226800-126232000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:126226800-126232000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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