Variant report

Variant	rs12503885
Chromosome Location	chr4:57287966-57287967
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:57285605..57288520-chr4:57332463..57334634,2	K562	blood:
2	chr4:57273545..57276214-chr4:57286488..57288454,2	K562	blood:
3	chr4:57286731..57288615-chr4:57289103..57290610,2	K562	blood:
4	chr4:57286264..57289033-chr4:57295104..57297672,3	K562	blood:
5	chr4:57274062..57276711-chr4:57286189..57288421,2	MCF-7	breast:
6	chr4:57283337..57287999-chr4:57297926..57302779,6	K562	blood:

Variant related genes	Relation type
ENSG00000174780	Chromatin interaction
ENSG00000128059	Chromatin interaction
ENSG00000128050	Chromatin interaction
ENSG00000268171	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12505749	0.90[ASN][1000 genomes]
rs1520025	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17086758	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4865086	0.90[ASN][1000 genomes]
rs60972582	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6834384	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6843073	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7435941	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7693436	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9799408	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	esv1801975	chr4:57267406-57297335	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57264200-57290200	Weak transcription	Esophagus	oesophagus
2	chr4:57264800-57301000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:57265000-57301000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:57272800-57292600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:57272800-57299800	Weak transcription	Primary T cells from cord blood	blood
6	chr4:57272800-57299800	Weak transcription	Fetal Thymus	thymus
7	chr4:57272800-57300000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:57274000-57290600	Weak transcription	GM12878-XiMat	blood
9	chr4:57274200-57296400	Weak transcription	Dnd41	blood
10	chr4:57277000-57289800	Weak transcription	Fetal Stomach	stomach
11	chr4:57277000-57290000	Weak transcription	Aorta	Aorta
12	chr4:57277000-57290200	Weak transcription	Ovary	ovary
13	chr4:57277000-57290800	Weak transcription	Right Atrium	heart
14	chr4:57277000-57294200	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:57277000-57299200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:57277000-57300000	Weak transcription	HSMM	muscle
17	chr4:57277800-57298000	Weak transcription	A549	lung
18	chr4:57278000-57290400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:57278000-57291600	Weak transcription	Brain Anterior Caudate	brain
20	chr4:57278000-57291600	Weak transcription	HepG2	liver
21	chr4:57278000-57294000	Weak transcription	HUVEC	blood vessel
22	chr4:57278000-57299200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:57278200-57300200	Weak transcription	Fetal Kidney	kidney
24	chr4:57278200-57300200	Weak transcription	NHDF-Ad	bronchial
25	chr4:57278400-57290800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:57278600-57290600	Weak transcription	K562	blood
27	chr4:57280600-57291800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:57280600-57292600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr4:57280600-57297800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:57280800-57299400	Weak transcription	Fetal Lung	lung
31	chr4:57281000-57295000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:57281000-57299200	Weak transcription	HMEC	breast
33	chr4:57281600-57291600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:57281800-57290800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr4:57284000-57294600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr4:57284800-57300400	Weak transcription	Fetal Intestine Small	intestine
37	chr4:57286600-57288000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:57286800-57288000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:57286800-57288800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:57286800-57289600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:57286800-57297400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:57287000-57288000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr4:57287000-57288000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:57287000-57288200	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr4:57287200-57288000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
46	chr4:57287200-57288000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:57287200-57288400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:57287400-57288000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:57287800-57291800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:57287800-57291800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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