Variant report

Variant	rs7663412
Chromosome Location	chr4:57183394-57183395
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	chr4:57182829..57184444-chr4:57184985..57187563,2	K562	blood:

Variant related genes	Relation type
ENSG00000250324	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4864577	0.84[EUR][1000 genomes]
rs9996468	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv3415289	chr4:57063312-57236755	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS 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	10 gene(s)	inside rSNPs	diseases
4	nsv829940	chr4:57072341-57262730	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv530121	chr4:57167367-57695576	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7663412	AASDH	Cis_1M	lymphoblastoid	RTeQTL
rs7663412	PPAT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57162800-57189400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr4:57163000-57184000	Weak transcription	Right Atrium	heart
3	chr4:57167600-57203400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:57167800-57218600	Weak transcription	Small Intestine	intestine
5	chr4:57171000-57187400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:57172000-57204000	Weak transcription	Stomach Mucosa	stomach
7	chr4:57173200-57202800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:57173800-57185200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:57174400-57195000	Strong transcription	Fetal Intestine Small	intestine
10	chr4:57174400-57203800	Weak transcription	Fetal Kidney	kidney
11	chr4:57174600-57197200	Strong transcription	Duodenum Mucosa	Duodenum
12	chr4:57176000-57183400	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr4:57176000-57190000	Weak transcription	Gastric	stomach
14	chr4:57177400-57185200	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr4:57177600-57215400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:57177800-57183400	Strong transcription	Colonic Mucosa	Colon
17	chr4:57177800-57184000	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:57177800-57184200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr4:57178000-57190400	Weak transcription	Brain Angular Gyrus	brain
20	chr4:57178200-57183600	Strong transcription	Fetal Stomach	stomach
21	chr4:57178200-57184400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr4:57178200-57189400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr4:57178200-57189800	Weak transcription	Brain Anterior Caudate	brain
24	chr4:57178200-57190000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr4:57178200-57190200	Weak transcription	Brain Substantia Nigra	brain
26	chr4:57178200-57211800	Weak transcription	Brain Hippocampus Middle	brain
27	chr4:57178600-57190200	Weak transcription	Fetal Brain Male	brain
28	chr4:57178800-57187000	Strong transcription	Fetal Brain Female	brain
29	chr4:57179200-57186200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:57180000-57183400	Strong transcription	Brain Germinal Matrix	brain
31	chr4:57180400-57183800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:57180400-57189800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:57180600-57190000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:57180800-57191800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:57180800-57197200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:57181000-57186600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr4:57181200-57190000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr4:57181200-57196400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:57181400-57203800	Weak transcription	HSMMtube	muscle
40	chr4:57181600-57189800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr4:57181800-57183600	Weak transcription	Fetal Muscle Leg	muscle
42	chr4:57181800-57191200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:57181800-57196200	Strong transcription	Fetal Intestine Large	intestine
44	chr4:57182200-57189800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr4:57182600-57183600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:57182600-57183600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr4:57182600-57184200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr4:57182800-57185400	Enhancers	Fetal Lung	lung
49	chr4:57182800-57189600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr4:57182800-57196800	Weak transcription	Ovary	ovary

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