Variant report

Variant	rs6946448
Chromosome Location	chr7:27881889-27881890
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	chr7:27877749..27879466-chr7:27881187..27883816,2	K562	blood:
2	chr7:27877025..27879466-chr7:27881187..27883994,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10278615	1.00[CHD][hapmap]
rs10951185	0.95[CEU][hapmap]
rs11763207	0.87[EUR][1000 genomes]
rs11975008	1.00[CHD][hapmap];0.97[GIH][hapmap]
rs12531234	1.00[CHD][hapmap]
rs67176119	0.92[EUR][1000 genomes]
rs7785045	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7804500	1.00[CHD][hapmap]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6946448	HIBADH	cis	lymphoblastoid	seeQTL

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27806000-27882600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:27836400-27882200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:27847600-27885200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr7:27854200-27882200	Weak transcription	Brain Substantia Nigra	brain
5	chr7:27856000-27882200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:27858200-27882600	Weak transcription	Esophagus	oesophagus
7	chr7:27866000-27884600	Strong transcription	Primary B cells from cord blood	blood
8	chr7:27866200-27882200	Weak transcription	NHLF	lung
9	chr7:27869600-27882800	Strong transcription	Primary B cells from peripheral blood	blood
10	chr7:27870600-27891800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:27870800-27882200	Weak transcription	Brain Germinal Matrix	brain
12	chr7:27871400-27889600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:27872800-27882000	Weak transcription	Liver	Liver
14	chr7:27872800-27886000	Weak transcription	HMEC	breast
15	chr7:27872800-27890000	Weak transcription	Fetal Lung	lung
16	chr7:27873000-27882600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:27873800-27886200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:27874000-27883200	Strong transcription	Fetal Stomach	stomach
19	chr7:27874200-27882000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:27874200-27882000	Weak transcription	HSMMtube	muscle
21	chr7:27874400-27888600	Weak transcription	Brain Angular Gyrus	brain
22	chr7:27874600-27882600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:27874600-27882600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:27874800-27882200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:27875200-27913000	Weak transcription	Right Atrium	heart
26	chr7:27876200-27913000	Weak transcription	Fetal Heart	heart
27	chr7:27876400-27886200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:27877400-27882200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:27877600-27882600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:27877800-27882000	Strong transcription	Stomach Smooth Muscle	stomach
31	chr7:27878000-27882200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:27878800-27884800	Weak transcription	Thymus	Thymus
33	chr7:27879000-27884800	Weak transcription	Fetal Intestine Large	intestine
34	chr7:27880000-27882000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:27880000-27891600	Weak transcription	Osteobl	bone
36	chr7:27880400-27882000	Weak transcription	Dnd41	blood
37	chr7:27880400-27882200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:27880400-27882400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:27880400-27884400	Enhancers	Fetal Brain Female	brain
40	chr7:27880400-27891000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:27880600-27882200	Weak transcription	Fetal Intestine Small	intestine
42	chr7:27880600-27882400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr7:27880600-27882600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr7:27880600-27882600	Weak transcription	Pancreas	Pancrea
45	chr7:27880600-27882800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr7:27880600-27883000	Weak transcription	Fetal Thymus	thymus
47	chr7:27880600-27883600	Weak transcription	Left Ventricle	heart
48	chr7:27880600-27889000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:27880600-27903000	Weak transcription	Lung	lung
50	chr7:27880600-27913600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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