Variant report

Variant	rs10241783
Chromosome Location	chr7:27857520-27857521
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27856504..27859420-chr7:27862843..27864597,2	K562	blood:
2	chr7:27701552..27704256-chr7:27856861..27858548,2	K562	blood:

Variant related genes	Relation type
ENSG00000106049	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10214930	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10230973	0.92[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10250333	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10268051	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17155876	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1859328	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2057998	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2074580	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2391485	0.87[ASN][1000 genomes]
rs28521509	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4481475	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4719906	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4722740	1.00[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6462050	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6462051	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6948467	0.94[ASN][1000 genomes]
rs6970578	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7800116	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7807738	0.93[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv5677	chr7:27839504-27884505	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1018550	chr7:27844038-27925645	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10241783	HIBADH	Cis_1M	lymphoblastoid	RTeQTL
rs10241783	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27781000-27861800	Weak transcription	Aorta	Aorta
2	chr7:27784800-27878400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:27798600-27874000	Weak transcription	Brain Angular Gyrus	brain
4	chr7:27805800-27857600	Weak transcription	Esophagus	oesophagus
5	chr7:27806000-27882600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:27806400-27878600	Weak transcription	Right Ventricle	heart
7	chr7:27815600-27874000	Weak transcription	Pancreas	Pancrea
8	chr7:27823800-27878000	Weak transcription	Spleen	Spleen
9	chr7:27824200-27876800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:27825600-27874000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:27826000-27870000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:27827000-27881800	Weak transcription	Small Intestine	intestine
13	chr7:27827600-27878400	Weak transcription	Fetal Kidney	kidney
14	chr7:27833000-27858000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:27833600-27858400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:27834400-27873600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:27835200-27857600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:27835200-27878200	Weak transcription	Gastric	stomach
19	chr7:27836400-27867400	Weak transcription	HUVEC	blood vessel
20	chr7:27836400-27878000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:27836400-27882200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:27837000-27873800	Weak transcription	Psoas Muscle	Psoas
23	chr7:27840000-27880600	Weak transcription	Hela-S3	cervix
24	chr7:27842400-27877800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:27843600-27877000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:27847600-27885200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr7:27848400-27871600	Weak transcription	HMEC	breast
28	chr7:27848400-27873400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr7:27848600-27868200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr7:27848600-27871000	Weak transcription	K562	blood
31	chr7:27849200-27873400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr7:27849800-27860200	Strong transcription	Primary T cells from cord blood	blood
33	chr7:27850200-27860000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr7:27850200-27860600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr7:27850200-27881400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:27850400-27861200	Strong transcription	Placenta	Placenta
37	chr7:27851200-27863800	Strong transcription	Liver	Liver
38	chr7:27851400-27860800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:27851800-27859600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:27852200-27862600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr7:27852800-27858400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:27853000-27868800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr7:27853200-27857800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:27853200-27861000	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr7:27853400-27857600	Weak transcription	Fetal Lung	lung
46	chr7:27853400-27860400	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr7:27853400-27864000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:27853600-27862000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:27853800-27861200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:27854000-27859400	Strong transcription	HSMM	muscle

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