Variant report

Variant	rs6944610
Chromosome Location	chr7:27693160-27693161
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27685470..27690267-chr7:27691795..27695111,4	MCF-7	breast:
2	chr7:27692165..27695057-chr7:27700602..27704339,4	MCF-7	breast:
3	chr7:27687263..27691114-chr7:27692730..27695309,3	K562	blood:

Variant related genes	Relation type
ENSG00000106049	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10081338	0.82[AMR][1000 genomes]
rs10081339	0.82[AMR][1000 genomes]
rs1015750	0.80[EUR][1000 genomes]
rs1030003	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10447552	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10486548	0.82[AMR][1000 genomes]
rs10951175	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10951176	0.91[ASN][1000 genomes]
rs1115346	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1115347	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11762342	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11763449	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11764753	0.82[AMR][1000 genomes]
rs11767188	0.80[EUR][1000 genomes]
rs11973492	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12155430	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12164139	0.85[ASN][1000 genomes]
rs12530626	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12535844	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537499	0.80[EUR][1000 genomes]
rs12665991	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12667235	0.82[EUR][1000 genomes]
rs12667610	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12668430	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12670771	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12672811	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12700817	0.80[EUR][1000 genomes]
rs12700822	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12700825	0.82[AMR][1000 genomes]
rs12700828	0.82[AMR][1000 genomes]
rs12700829	0.82[AMR][1000 genomes]
rs12700830	0.82[AMR][1000 genomes]
rs13226102	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13242248	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13244903	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13246464	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13308974	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1404276	0.80[EUR][1000 genomes]
rs1404278	0.82[EUR][1000 genomes]
rs1554641	0.80[EUR][1000 genomes]
rs1880370	0.80[EUR][1000 genomes]
rs1980329	0.82[EUR][1000 genomes]
rs2110526	0.82[EUR][1000 genomes]
rs2110528	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2160125	0.82[AMR][1000 genomes]
rs2391447	0.82[AMR][1000 genomes]
rs2391449	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2391452	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2391453	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2391454	0.82[AMR][1000 genomes]
rs28416309	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28429439	0.80[EUR][1000 genomes]
rs3925338	0.80[EUR][1000 genomes]
rs42085	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs42087	0.82[AMR][1000 genomes]
rs42111	0.87[EUR][1000 genomes]
rs4348389	0.82[EUR][1000 genomes]
rs4722724	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4722726	0.81[AMR][1000 genomes]
rs4722728	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56123216	0.85[ASN][1000 genomes]
rs56139857	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58747588	0.85[ASN][1000 genomes]
rs6415251	0.90[EUR][1000 genomes]
rs6462031	0.80[EUR][1000 genomes]
rs6462036	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6462037	0.81[EUR][1000 genomes]
rs6462038	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6943883	0.81[AMR][1000 genomes]
rs6945993	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6947731	0.82[EUR][1000 genomes]
rs6948460	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6948814	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6955074	0.81[EUR][1000 genomes]
rs6957378	0.82[AMR][1000 genomes]
rs6959495	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6960834	0.82[EUR][1000 genomes]
rs6963421	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6963585	0.80[EUR][1000 genomes]
rs6966587	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6970104	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6974387	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6974932	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6980382	0.82[EUR][1000 genomes]
rs759269	0.80[EUR][1000 genomes]
rs7778320	0.85[ASN][1000 genomes]
rs7779990	0.82[AMR][1000 genomes]
rs7780431	0.80[EUR][1000 genomes]
rs7783447	0.80[EUR][1000 genomes]
rs7790498	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7805086	0.91[ASN][1000 genomes]
rs7806415	0.82[AMR][1000 genomes]
rs7806812	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7809748	0.83[EUR][1000 genomes]
rs7811436	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs978447	0.80[EUR][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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6944610	HIBADH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27654400-27696400	Weak transcription	Gastric	stomach
2	chr7:27660600-27701000	Weak transcription	Right Ventricle	heart
3	chr7:27661200-27694800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr7:27661400-27700800	Weak transcription	Thymus	Thymus
5	chr7:27661800-27694400	Weak transcription	Lung	lung
6	chr7:27671400-27701600	Weak transcription	Spleen	Spleen
7	chr7:27674000-27700800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:27674800-27695200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:27675000-27700800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:27675400-27701400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:27676000-27701600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:27676200-27693200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr7:27676200-27701600	Weak transcription	Psoas Muscle	Psoas
14	chr7:27676600-27700600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:27677400-27701400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:27680400-27701000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:27680800-27701200	Weak transcription	Small Intestine	intestine
18	chr7:27681000-27701200	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:27681600-27701400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:27681600-27701400	Weak transcription	Fetal Kidney	kidney
21	chr7:27681800-27696600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:27681800-27696600	Weak transcription	Brain Substantia Nigra	brain
23	chr7:27681800-27696800	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:27681800-27700400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:27681800-27700600	Weak transcription	Colon Smooth Muscle	Colon
26	chr7:27681800-27701000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:27681800-27701000	Weak transcription	Pancreas	Pancrea
28	chr7:27681800-27701400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:27681800-27701400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:27681800-27701400	Weak transcription	Fetal Heart	heart
31	chr7:27682000-27700400	Weak transcription	HepG2	liver
32	chr7:27682200-27701400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:27683600-27700600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:27683600-27700600	Weak transcription	NHEK	skin
35	chr7:27683600-27701000	Weak transcription	HMEC	breast
36	chr7:27685400-27700600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr7:27685400-27701400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:27685400-27701400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:27687000-27700600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:27687000-27701400	Weak transcription	HUVEC	blood vessel
41	chr7:27687000-27701800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:27687200-27701200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:27687400-27693200	Weak transcription	NHLF	lung
44	chr7:27687400-27696600	Weak transcription	A549	lung
45	chr7:27687400-27701400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr7:27687800-27700800	Weak transcription	Brain Angular Gyrus	brain
47	chr7:27688000-27700800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:27688000-27700800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:27688000-27701200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:27688000-27701600	Weak transcription	Left Ventricle	heart

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