Variant report

Variant	rs34616305
Chromosome Location	chr4:119690851-119690852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr4:119690693-119695009	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119689368..119690979-chr4:119755279..119757567,2	MCF-7	breast:
2	chr4:119678126..119681409-chr4:119688940..119691531,4	MCF-7	breast:

Variant related genes	Relation type
SEC24D	TF binding region
ENSG00000150961	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10011672	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10014208	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10470914	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10518322	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10518323	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10518324	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11098449	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11098450	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11722833	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11730993	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11736024	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12500272	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12505513	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506295	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12506576	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12509236	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12509654	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12649666	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13109947	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13109966	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13114964	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13120798	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13128195	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17050423	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs298989	0.86[AMR][1000 genomes]
rs298990	0.86[AMR][1000 genomes]
rs34384498	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34730066	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35868882	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3775836	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4834699	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58450672	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs67175714	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7676832	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs960739	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9997799	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119607800-119693800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:119625800-119718000	Weak transcription	Hela-S3	cervix
3	chr4:119640800-119692600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:119649200-119693600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:119662000-119694400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:119678200-119692000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:119678600-119717400	Weak transcription	Esophagus	oesophagus
8	chr4:119679000-119717600	Weak transcription	Colonic Mucosa	Colon
9	chr4:119680400-119693400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:119680600-119691800	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:119681000-119692200	Strong transcription	HepG2	liver
12	chr4:119681200-119691600	Strong transcription	Placenta	Placenta
13	chr4:119681400-119691800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:119682200-119691600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr4:119682200-119691600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:119682200-119692200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:119682200-119692400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:119684200-119693400	Weak transcription	Fetal Brain Male	brain
19	chr4:119684400-119704000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:119685600-119692400	Strong transcription	Liver	Liver
21	chr4:119685800-119694400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:119686800-119704600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:119687200-119691800	Weak transcription	Brain Substantia Nigra	brain
24	chr4:119687400-119691400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:119687400-119691600	Strong transcription	GM12878-XiMat	blood
26	chr4:119687600-119691000	Strong transcription	Fetal Intestine Small	intestine
27	chr4:119687600-119711800	Weak transcription	Stomach Mucosa	stomach
28	chr4:119688000-119691000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:119688000-119693600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr4:119688200-119691000	Strong transcription	HSMMtube	muscle
31	chr4:119688200-119691000	Strong transcription	NHLF	lung
32	chr4:119688200-119692200	Strong transcription	HSMM	muscle
33	chr4:119688400-119691400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr4:119688400-119692400	Strong transcription	Fetal Muscle Leg	muscle
35	chr4:119688400-119693600	Weak transcription	Brain Hippocampus Middle	brain
36	chr4:119688400-119693600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:119688400-119693800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:119688400-119693800	Weak transcription	Psoas Muscle	Psoas
39	chr4:119688400-119693800	Weak transcription	Small Intestine	intestine
40	chr4:119688400-119702400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr4:119688600-119691000	Weak transcription	Ovary	ovary
42	chr4:119688600-119691200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr4:119688600-119691200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr4:119688600-119691800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr4:119688600-119692800	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr4:119688600-119693000	Strong transcription	HUVEC	blood vessel
47	chr4:119688600-119693600	Weak transcription	Aorta	Aorta
48	chr4:119688600-119693600	Weak transcription	Right Atrium	heart
49	chr4:119688600-119693600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr4:119688600-119693800	Weak transcription	Brain Anterior Caudate	brain

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