Variant report

Variant	rs10253917
Chromosome Location	chr7:27834170-27834171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27824247..27826333-chr7:27833436..27835500,2	K562	blood:
2	chr7:27822809..27825747-chr7:27834000..27835827,2	K562	blood:
3	chr7:27832794..27834695-chr7:27850538..27852505,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10239899	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110524	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs42119	0.91[AMR][1000 genomes];1.00[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10253917	HIBADH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 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	chr7:27790600-27835000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:27790600-27857400	Weak transcription	Colonic Mucosa	Colon
5	chr7:27798600-27847800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:27798600-27874000	Weak transcription	Brain Angular Gyrus	brain
7	chr7:27801200-27851800	Weak transcription	Fetal Brain Male	brain
8	chr7:27801400-27838400	Weak transcription	Fetal Brain Female	brain
9	chr7:27801600-27852800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:27805800-27857600	Weak transcription	Esophagus	oesophagus
11	chr7:27806000-27882600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:27806400-27878600	Weak transcription	Right Ventricle	heart
13	chr7:27811800-27835000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:27815600-27874000	Weak transcription	Pancreas	Pancrea
15	chr7:27817400-27836200	Weak transcription	Psoas Muscle	Psoas
16	chr7:27818800-27834800	Weak transcription	Gastric	stomach
17	chr7:27820400-27847400	Weak transcription	Fetal Heart	heart
18	chr7:27820800-27836200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:27823800-27878000	Weak transcription	Spleen	Spleen
20	chr7:27824200-27843000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:27824200-27876800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr7:27824600-27836600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr7:27824600-27837000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:27824600-27839000	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr7:27824600-27840000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr7:27824600-27842800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:27824600-27843200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr7:27824800-27842800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr7:27825000-27842600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:27825600-27848000	Weak transcription	NHLF	lung
31	chr7:27825600-27874000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:27826000-27838400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:27826000-27870000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr7:27826400-27834200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:27826600-27834600	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:27826600-27852800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:27826800-27837400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:27827000-27881800	Weak transcription	Small Intestine	intestine
39	chr7:27827600-27878400	Weak transcription	Fetal Kidney	kidney
40	chr7:27828000-27834200	Weak transcription	Fetal Lung	lung
41	chr7:27828400-27834600	Weak transcription	HepG2	liver
42	chr7:27828400-27834800	Weak transcription	HSMMtube	muscle
43	chr7:27831200-27834200	Strong transcription	Fetal Intestine Large	intestine
44	chr7:27831200-27834600	Strong transcription	Fetal Thymus	thymus
45	chr7:27831200-27834800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr7:27831200-27836000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr7:27831200-27836200	Strong transcription	Primary B cells from cord blood	blood
48	chr7:27831200-27836200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr7:27831200-27836400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:27831200-27837000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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