Variant report

Variant	rs2391446
Chromosome Location	chr7:27648920-27648921
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	chr7:27646490..27649640-chr7:27701348..27703322,3	K562	blood:
2	chr7:27647308..27649264-chr7:27813060..27815813,2	K562	blood:

Variant related genes	Relation type
ENSG00000106049	Chromatin interaction

Extended variants
information (count: 156 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs1005128	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10081338	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10081339	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1009252	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1014373	0.88[YRI][hapmap];0.85[AMR][1000 genomes]
rs1015265	1.00[CEU][hapmap];0.91[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1015750	0.83[CEU][hapmap];0.88[AMR][1000 genomes]
rs1030003	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10447552	0.84[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes]
rs10486548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1052724	0.82[AMR][1000 genomes]
rs1052741	0.80[CEU][hapmap];0.82[AMR][1000 genomes]
rs10807841	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10951171	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10951172	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10951173	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10951175	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs1115346	0.88[CEU][hapmap]
rs11764753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11767188	0.87[AMR][1000 genomes]
rs12155430	0.85[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes]
rs12164139	0.82[CHB][hapmap]
rs12530626	0.89[CEU][hapmap];0.82[CHB][hapmap]
rs12531518	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12535844	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs12537499	0.84[CEU][hapmap];0.88[AMR][1000 genomes]
rs12540063	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12665991	0.82[CHB][hapmap];0.83[AMR][1000 genomes]
rs12667235	0.84[CEU][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12667610	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs12668430	0.84[CEU][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12670415	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12670771	0.83[AMR][1000 genomes]
rs12672811	0.81[AMR][1000 genomes]
rs12673949	1.00[CEU][hapmap];0.88[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12700817	0.84[CEU][hapmap];0.87[AMR][1000 genomes]
rs12700819	0.87[AMR][1000 genomes]
rs12700822	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12700823	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12700824	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12700825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12700826	0.89[CEU][hapmap];0.82[CHB][hapmap]
rs12700828	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12700829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12700830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13226102	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13242248	0.85[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes]
rs13244903	0.85[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes]
rs13246464	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs13308974	0.91[AMR][1000 genomes]
rs1404276	0.85[CEU][hapmap];0.92[YRI][hapmap];0.87[AMR][1000 genomes]
rs1404278	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1404282	1.00[CEU][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1524529	1.00[CEU][hapmap];0.92[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1524532	0.84[CEU][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1524533	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1554641	0.87[AMR][1000 genomes]
rs1608663	1.00[CEU][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1608664	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1851913	0.85[CEU][hapmap];0.87[AMR][1000 genomes]
rs1880370	0.85[CEU][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes]
rs1980329	0.84[CEU][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1980330	1.00[CEU][hapmap];0.91[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2041714	0.84[CEU][hapmap];0.88[AMR][1000 genomes]
rs2041715	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2080245	0.85[CEU][hapmap];0.85[AMR][1000 genomes]
rs2080246	0.85[AMR][1000 genomes]
rs2098315	0.80[CEU][hapmap];0.87[AMR][1000 genomes]
rs2098316	0.85[AMR][1000 genomes]
rs2110526	0.83[CEU][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2110528	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2160125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2391443	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2391444	0.94[CEU][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2391445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2391447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2391448	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2391451	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2391452	0.82[CHB][hapmap];0.81[AMR][1000 genomes]
rs2391453	0.85[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes]
rs2391454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28416309	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28429439	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3847001	0.82[AMR][1000 genomes]
rs3925338	0.84[CEU][hapmap];0.87[AMR][1000 genomes]
rs4140899	0.84[CEU][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs42085	0.84[CEU][hapmap];0.81[AMR][1000 genomes]
rs42087	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs42088	1.00[YRI][hapmap]
rs42092	0.84[AMR][1000 genomes]
rs4348389	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4719898	0.82[AMR][1000 genomes]
rs4719900	0.85[AMR][1000 genomes]
rs4719902	0.85[CEU][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes]
rs4722719	0.84[CEU][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4722724	0.84[CEU][hapmap];0.82[CHB][hapmap]
rs4722726	1.00[CEU][hapmap];0.90[YRI][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4722728	0.84[CEU][hapmap];0.81[AMR][1000 genomes]
rs6462026	0.82[AMR][1000 genomes]
rs6462029	0.80[CEU][hapmap];0.87[AMR][1000 genomes]
rs6462031	0.89[CEU][hapmap];0.87[AMR][1000 genomes]
rs6462033	1.00[CEU][hapmap];0.91[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6462034	0.85[CEU][hapmap];0.85[AMR][1000 genomes]
rs6462036	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6462037	0.84[CEU][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6462038	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs6462039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6943883	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6945993	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs6946305	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6947731	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6948460	0.81[AMR][1000 genomes]
rs6948814	0.85[CEU][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6954905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6955074	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6957378	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6958747	0.84[CEU][hapmap];0.82[CHB][hapmap]
rs6959126	0.88[AMR][1000 genomes]
rs6959495	0.85[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes]
rs6960834	0.84[CEU][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6963585	0.87[AMR][1000 genomes]
rs6966091	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6966587	0.81[AMR][1000 genomes]
rs6970104	0.84[CEU][hapmap];0.82[CHB][hapmap]
rs6974387	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs6974932	0.84[CEU][hapmap];0.82[CHB][hapmap]
rs6980382	0.85[CEU][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs759269	0.88[AMR][1000 genomes]
rs759270	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs759271	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7778320	0.82[CHB][hapmap]
rs7779990	1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7780431	0.88[AMR][1000 genomes]
rs7782422	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7783447	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7786973	1.00[CEU][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7789788	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7790498	0.83[AMR][1000 genomes]
rs7794292	0.82[CHB][hapmap]
rs7806415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7806605	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7806812	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs7808275	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7809748	0.85[CEU][hapmap]
rs7811436	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs961723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs961724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs961725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9639552	0.85[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs9639553	0.80[CEU][hapmap];0.87[AMR][1000 genomes]
rs9639559	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9639560	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs974883	1.00[CEU][hapmap];0.91[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs978447	0.84[CEU][hapmap];0.87[AMR][1000 genomes]
rs986706	0.85[CEU][hapmap]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2391446	HIBADH	cis	multi-tissue	Pritchard
rs2391446	HIBADH	Cis_1M	lymphoblastoid	RTeQTL
rs2391446	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27582400-27650800	Weak transcription	Left Ventricle	heart
2	chr7:27609400-27651000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:27615600-27657800	Weak transcription	Aorta	Aorta
4	chr7:27616000-27650800	Weak transcription	Fetal Kidney	kidney
5	chr7:27626600-27654800	Weak transcription	Placenta	Placenta
6	chr7:27626800-27655800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:27628200-27658400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:27628600-27658400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr7:27629600-27655400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:27630200-27654600	Weak transcription	Primary B cells from cord blood	blood
11	chr7:27630400-27656800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:27632200-27655600	Weak transcription	Primary T cells from cord blood	blood
13	chr7:27644200-27655400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:27644400-27649200	Enhancers	Fetal Intestine Small	intestine
15	chr7:27644400-27658400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr7:27645000-27649000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:27645400-27655600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:27646000-27655200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:27646200-27649200	Enhancers	Fetal Intestine Large	intestine
20	chr7:27646200-27651800	Enhancers	Hela-S3	cervix
21	chr7:27646200-27655600	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:27646200-27657800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr7:27646400-27650800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:27646400-27650800	Weak transcription	NHDF-Ad	bronchial
25	chr7:27646400-27654800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:27646400-27655600	Weak transcription	Fetal Stomach	stomach
27	chr7:27646600-27649200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:27646600-27649200	Enhancers	HUVEC	blood vessel
29	chr7:27646600-27656600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr7:27646600-27658400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:27646800-27649400	Enhancers	A549	lung
32	chr7:27646800-27650200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:27646800-27650400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:27646800-27655600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:27646800-27657800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:27646800-27658800	Weak transcription	Osteobl	bone
37	chr7:27646800-27659600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr7:27647000-27650400	Weak transcription	Fetal Lung	lung
39	chr7:27647000-27655800	Weak transcription	Ovary	ovary
40	chr7:27647000-27657200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:27647000-27660200	Weak transcription	Small Intestine	intestine
42	chr7:27647200-27649000	Enhancers	Liver	Liver
43	chr7:27647200-27650800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:27647200-27655600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:27647200-27655600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:27647800-27649000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:27647800-27649000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr7:27648000-27649200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:27648400-27649000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr7:27648400-27649000	Enhancers	HMEC	breast

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