Variant report

Variant	rs67139073
Chromosome Location	chr8:124807975-124807976
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124805880..124808291-chr8:124814398..124816910,2	MCF-7	breast:
2	chr8:124807128..124809976-chr8:124813752..124817670,3	K562	blood:
3	chr8:124805038..124806717-chr8:124806723..124808347,2	MCF-7	breast:
4	chr8:124807675..124809478-chr8:124853214..124854942,2	K562	blood:
5	chr8:124780624..124782319-chr8:124806131..124809014,2	K562	blood:

Variant related genes	Relation type
ENSG00000176853	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10087476	1.00[ASN][1000 genomes]
rs10102074	0.88[ASN][1000 genomes]
rs10429369	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10481071	1.00[ASN][1000 genomes]
rs10481072	1.00[ASN][1000 genomes]
rs10481073	1.00[ASN][1000 genomes]
rs10481151	0.99[ASN][1000 genomes]
rs11986791	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12541177	0.90[ASN][1000 genomes]
rs12546891	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12549683	0.90[ASN][1000 genomes]
rs12550235	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13253599	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13261392	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13270541	0.91[ASN][1000 genomes]
rs13275308	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13278088	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13278192	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1367829	0.91[ASN][1000 genomes]
rs16898871	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1835691	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1966620	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2060112	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2272683	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2385515	1.00[ASN][1000 genomes]
rs2385516	0.98[ASN][1000 genomes]
rs28495871	1.00[ASN][1000 genomes]
rs34253744	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34354351	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34850344	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35420592	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3911939	0.93[ASN][1000 genomes]
rs4870867	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4870869	0.81[ASN][1000 genomes]
rs4871414	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871415	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60068098	0.98[ASN][1000 genomes]
rs6470186	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66474276	0.93[ASN][1000 genomes]
rs66515434	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67237665	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67958403	0.93[ASN][1000 genomes]
rs6985019	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6986269	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6986384	1.00[ASN][1000 genomes]
rs6988602	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6998271	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7004482	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7012004	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7014688	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7015861	0.91[ASN][1000 genomes]
rs7017174	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73333742	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73337418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73337464	1.00[ASN][1000 genomes]
rs73337467	1.00[ASN][1000 genomes]
rs73337469	1.00[ASN][1000 genomes]
rs7815695	0.83[ASN][1000 genomes]
rs7827025	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7827665	0.87[ASN][1000 genomes]
rs7828192	0.87[ASN][1000 genomes]
rs7833650	0.92[ASN][1000 genomes]
rs7846164	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs874205	1.00[ASN][1000 genomes]
rs874206	1.00[ASN][1000 genomes]
rs874207	1.00[ASN][1000 genomes]
rs9297674	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9297675	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9297676	1.00[ASN][1000 genomes]
rs9918907	0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124781800-124811200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:124783600-124808000	Weak transcription	Fetal Heart	heart
3	chr8:124785400-124815000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:124785600-124815000	Strong transcription	Duodenum Mucosa	Duodenum
5	chr8:124785800-124829000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:124786000-124825200	Strong transcription	Fetal Thymus	thymus
7	chr8:124786200-124814400	Strong transcription	HSMM	muscle
8	chr8:124786200-124815200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:124786200-124815400	Strong transcription	Dnd41	blood
10	chr8:124786200-124825200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:124786400-124813800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:124786400-124815000	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:124786400-124815200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr8:124786400-124827200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr8:124786800-124814600	Strong transcription	Placenta	Placenta
16	chr8:124787000-124813800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:124787000-124816400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:124787000-124822800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:124787000-124827000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr8:124787400-124814400	Strong transcription	A549	lung
21	chr8:124787600-124818800	Strong transcription	Liver	Liver
22	chr8:124789200-124824600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:124789400-124814800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr8:124789400-124821600	Weak transcription	Stomach Mucosa	stomach
25	chr8:124789400-124825200	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr8:124789600-124811400	Strong transcription	Fetal Lung	lung
27	chr8:124789800-124827400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr8:124790000-124827800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:124790200-124828600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:124790600-124814800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:124790800-124813400	Strong transcription	HUVEC	blood vessel
32	chr8:124790800-124814400	Strong transcription	Osteobl	bone
33	chr8:124790800-124815800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:124790800-124825200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:124791000-124828600	Strong transcription	Primary B cells from cord blood	blood
36	chr8:124791000-124828600	Strong transcription	Primary B cells from peripheral blood	blood
37	chr8:124791200-124814200	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:124791200-124815000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:124791200-124815800	Strong transcription	Adipose Nuclei	Adipose
40	chr8:124791200-124828600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:124791200-124828600	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr8:124791200-124829000	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr8:124791200-124829200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr8:124791400-124814000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr8:124791400-124816000	Strong transcription	Primary T cells from cord blood	blood
46	chr8:124792200-124815600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr8:124793400-124814600	Strong transcription	Fetal Intestine Large	intestine
48	chr8:124793400-124815800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:124793600-124814800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr8:124793600-124815800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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