Variant report

Variant	rs4683404
Chromosome Location	chr3:141160371-141160372
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:141158978..141161991-chr3:141166297..141169047,4	K562	blood:
2	chr3:141159186..141161799-chr3:141162940..141165870,2	MCF-7	breast:
3	chr3:141079769..141080419-chr3:141159982..141160828,3	K562	blood:
4	chr3:141030366..141030894-chr3:141159937..141160843,2	K562	blood:
5	chr3:141079580..141080372-chr3:141159972..141160950,4	MCF-7	breast:
6	chr3:141159442..141161991-chr3:141166297..141167819,2	K562	blood:
7	chr3:141153683..141156573-chr3:141158682..141161645,2	K562	blood:
8	chr3:141157834..141161364-chr3:141205126..141207553,3	K562	blood:
9	chr3:141158936..141162571-chr3:141173016..141176156,4	MCF-7	breast:
10	chr3:141160175..141161761-chr3:141162078..141164256,2	MCF-7	breast:
11	chr3:141157834..141161921-chr3:141205126..141207972,3	K562	blood:
12	chr3:141028495..141032567-chr3:141157435..141162053,7	K562	blood:
13	chr3:141087440..141090679-chr3:141157733..141160398,4	K562	blood:
14	chr3:141087251..141089777-chr3:141160023..141161997,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000155903	Chromatin interaction
ENSG00000177311	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs16851435	0.83[CEU][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs16851438	0.91[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs16851441	0.91[CEU][hapmap];0.83[CHB][hapmap];0.88[JPT][hapmap];0.92[EUR][1000 genomes]
rs16851483	0.88[JPT][hapmap]
rs2035935	0.88[JPT][hapmap]
rs2035936	0.82[JPT][hapmap]
rs2312193	0.88[JPT][hapmap]
rs2639997	0.88[JPT][hapmap]
rs2640017	0.88[JPT][hapmap]
rs295299	0.88[JPT][hapmap]
rs295300	0.88[JPT][hapmap]
rs3732869	0.88[JPT][hapmap]
rs3821709	0.88[JPT][hapmap]
rs4683610	0.88[JPT][hapmap]
rs62282002	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7626871	0.91[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7627807	0.88[JPT][hapmap]
rs9878347	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs9879503	0.80[CHB][hapmap];0.82[JPT][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	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4683404	FLJ35036	cis	multi-tissue	Pritchard
rs4683404	ZBTB38	cis	cerebellar cortex	BrainEAC
rs4683404	ZBTB38	cis	brain	BrainEAC
rs4683404	ZBTB38	cis	occipital cortex	BrainEAC
rs4683404	ZBTB38	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141131800-141161200	Weak transcription	Thymus	Thymus
2	chr3:141132200-141171000	Weak transcription	Primary B cells from cord blood	blood
3	chr3:141134000-141161600	Weak transcription	Fetal Brain Male	brain
4	chr3:141134200-141161600	Weak transcription	Primary T cells from cord blood	blood
5	chr3:141145400-141161200	Weak transcription	Fetal Brain Female	brain
6	chr3:141145400-141161800	Weak transcription	Esophagus	oesophagus
7	chr3:141145800-141161600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr3:141147000-141161200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:141147000-141161200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:141148800-141161600	Weak transcription	Brain Germinal Matrix	brain
11	chr3:141148800-141161600	Weak transcription	Spleen	Spleen
12	chr3:141148800-141161800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr3:141148800-141164200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:141149400-141164200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:141149600-141161200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:141150800-141161200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr3:141153200-141161600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr3:141153200-141164000	Weak transcription	Psoas Muscle	Psoas
19	chr3:141153400-141160400	Weak transcription	Right Atrium	heart
20	chr3:141155000-141161400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:141155400-141161200	Weak transcription	Liver	Liver
22	chr3:141155400-141170800	Weak transcription	Fetal Thymus	thymus
23	chr3:141156200-141161800	Weak transcription	Ovary	ovary
24	chr3:141156400-141161600	Weak transcription	Colonic Mucosa	Colon
25	chr3:141156400-141161800	Weak transcription	Gastric	stomach
26	chr3:141156400-141161800	Weak transcription	Pancreas	Pancrea
27	chr3:141156400-141166600	Strong transcription	Fetal Intestine Large	intestine
28	chr3:141157000-141160800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr3:141157400-141160400	Genic enhancers	A549	lung
30	chr3:141157600-141161600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:141157800-141160400	Weak transcription	Right Ventricle	heart
32	chr3:141157800-141161200	Weak transcription	Aorta	Aorta
33	chr3:141157800-141161200	Enhancers	Colon Smooth Muscle	Colon
34	chr3:141157800-141161200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr3:141157800-141161400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:141157800-141161800	Weak transcription	Lung	lung
37	chr3:141158000-141160400	Enhancers	Brain Anterior Caudate	brain
38	chr3:141158000-141160600	Enhancers	Brain Substantia Nigra	brain
39	chr3:141158200-141160600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:141158200-141160600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr3:141158200-141160600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr3:141158200-141161000	Weak transcription	Fetal Muscle Leg	muscle
43	chr3:141158200-141161200	Weak transcription	Adipose Nuclei	Adipose
44	chr3:141158400-141160600	Enhancers	Brain Hippocampus Middle	brain
45	chr3:141158400-141160800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:141158400-141160800	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr3:141158400-141161600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:141158600-141160400	Weak transcription	Left Ventricle	heart
49	chr3:141158600-141160400	Weak transcription	HSMM	muscle
50	chr3:141158600-141161200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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