Variant report

Variant	rs13152024
Chromosome Location	chr4:147429316-147429317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:147428018..147430283-chr4:147430558..147433344,2	MCF-7	breast:
2	chr4:147418770..147421708-chr4:147429098..147431624,2	K562	blood:
3	chr4:147422785..147424738-chr4:147428828..147431211,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2357080	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35559029	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35578055	0.81[ASN][1000 genomes]
rs41398848	0.84[GIH][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	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv428453	chr4:147335953-147457115	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13152024	GYPA	cis	parietal	SCAN
rs13152024	SLC10A7	cis	cerebellum	SCAN

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147403000-147436200	Weak transcription	Lung	lung
2	chr4:147403800-147440600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:147404200-147441800	Weak transcription	Right Ventricle	heart
4	chr4:147405400-147436200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:147405400-147440600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:147405600-147440800	Weak transcription	Fetal Intestine Large	intestine
7	chr4:147406400-147435200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:147407000-147441800	Weak transcription	Aorta	Aorta
9	chr4:147407200-147441800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:147408200-147429600	Weak transcription	Psoas Muscle	Psoas
11	chr4:147408200-147441400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:147408200-147442200	Weak transcription	Spleen	Spleen
13	chr4:147408600-147440800	Weak transcription	Fetal Brain Female	brain
14	chr4:147409400-147441200	Weak transcription	Fetal Stomach	stomach
15	chr4:147410400-147436000	Weak transcription	Brain Anterior Caudate	brain
16	chr4:147410400-147441000	Weak transcription	Brain Germinal Matrix	brain
17	chr4:147410400-147441200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:147410800-147432600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:147410800-147432600	Weak transcription	HUVEC	blood vessel
20	chr4:147410800-147436000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr4:147410800-147439600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:147412400-147435800	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:147412400-147441000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr4:147412600-147441200	Weak transcription	Brain Substantia Nigra	brain
25	chr4:147412800-147435800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr4:147416000-147441400	Weak transcription	Small Intestine	intestine
27	chr4:147416000-147442000	Weak transcription	Gastric	stomach
28	chr4:147416600-147435400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:147416600-147440600	Weak transcription	NH-A	brain
30	chr4:147416800-147432400	Weak transcription	K562	blood
31	chr4:147416800-147432600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:147416800-147434400	Weak transcription	HSMMtube	muscle
33	chr4:147416800-147439800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:147417000-147435800	Weak transcription	Osteobl	bone
35	chr4:147417000-147440600	Weak transcription	Fetal Heart	heart
36	chr4:147417000-147440800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:147417400-147440600	Weak transcription	HMEC	breast
38	chr4:147417600-147439800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr4:147417600-147440600	Weak transcription	NHLF	lung
40	chr4:147417600-147441000	Weak transcription	NHDF-Ad	bronchial
41	chr4:147417600-147441400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:147417600-147442200	Weak transcription	Esophagus	oesophagus
43	chr4:147417800-147440600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr4:147417800-147440800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:147417800-147442000	Weak transcription	Pancreas	Pancrea
46	chr4:147420600-147441400	Weak transcription	Fetal Brain Male	brain
47	chr4:147421200-147440800	Weak transcription	Colon Smooth Muscle	Colon
48	chr4:147421400-147440600	Weak transcription	HepG2	liver
49	chr4:147423000-147429600	Weak transcription	Fetal Muscle Leg	muscle
50	chr4:147423000-147440800	Weak transcription	Ovary	ovary

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