Variant report

Variant	rs4623203
Chromosome Location	chr5:154117397-154117398
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	chr5:154114978..154117402-chr5:154132990..154134533,2	MCF-7	breast:
2	chr5:154110905..154113658-chr5:154115754..154117502,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1233078	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2396999	0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2544860	0.91[CEU][hapmap];0.82[YRI][hapmap]
rs6873483	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6876004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728194	0.89[ASN][1000 genomes]
rs816747	0.91[ASW][hapmap];0.91[CEU][hapmap];0.92[LWK][hapmap];0.87[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.91[YRI][hapmap]
rs960499	1.00[ASW][hapmap];0.91[CEU][hapmap];0.97[LWK][hapmap];0.92[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]

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	nsv1021153	chr5:154099869-154147970	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4623203	TIMD4	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154074200-154120000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:154102200-154117400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:154104000-154120000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr5:154104400-154118600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:154104600-154117600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:154107200-154133200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr5:154108800-154117400	Weak transcription	Pancreas	Pancrea
8	chr5:154109200-154120000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:154109600-154117400	Weak transcription	A549	lung
10	chr5:154109600-154120000	Weak transcription	Liver	Liver
11	chr5:154109600-154120800	Weak transcription	Stomach Mucosa	stomach
12	chr5:154111200-154120400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:154111400-154117400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:154111400-154120200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:154112000-154120800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:154112200-154123600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:154112600-154120200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:154112800-154117400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:154113000-154120400	Weak transcription	Psoas Muscle	Psoas
20	chr5:154115800-154120400	Weak transcription	Left Ventricle	heart
21	chr5:154116200-154132400	Weak transcription	Fetal Intestine Small	intestine
22	chr5:154116400-154119200	Weak transcription	Adipose Nuclei	Adipose
23	chr5:154117000-154117600	Weak transcription	Gastric	stomach
24	chr5:154117000-154120000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr5:154117200-154117800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr5:154117200-154117800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr5:154117200-154118000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:154117200-154118000	Enhancers	HepG2	liver

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