Variant report

Variant	rs4630333
Chromosome Location	chr12:56837416-56837417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56831091..56839552-chr12:56841407..56847301,11	K562	blood:
2	chr12:56827605..56830208-chr12:56835234..56837438,3	K562	blood:
3	chr12:56836999..56839151-chr12:56859410..56862105,2	K562	blood:
4	chr12:56836758..56838367-chr12:56840273..56842942,2	K562	blood:

Variant related genes	Relation type
ENSG00000111602	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1826730	0.89[JPT][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2088155	0.89[ASN][1000 genomes]
rs2269348	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61937720	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7302060	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7313455	0.84[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7953824	0.87[AMR][1000 genomes];0.89[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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56811800-56842400	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:56813000-56842600	Weak transcription	Fetal Heart	heart
3	chr12:56813200-56841200	Weak transcription	Fetal Kidney	kidney
4	chr12:56813800-56842400	Weak transcription	Right Atrium	heart
5	chr12:56816200-56842400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:56822800-56838000	Weak transcription	HUVEC	blood vessel
7	chr12:56825400-56842000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:56826200-56842400	Weak transcription	NH-A	brain
9	chr12:56826400-56841800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:56826400-56842200	Weak transcription	HSMM	muscle
11	chr12:56826400-56842400	Weak transcription	NHDF-Ad	bronchial
12	chr12:56827200-56842600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:56827800-56837800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:56827800-56841200	Weak transcription	HepG2	liver
15	chr12:56827800-56841800	Weak transcription	Primary B cells from cord blood	blood
16	chr12:56827800-56841800	Weak transcription	Lung	lung
17	chr12:56827800-56842200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:56827800-56842400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:56827800-56842400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:56827800-56842400	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:56827800-56842400	Weak transcription	Fetal Stomach	stomach
22	chr12:56827800-56842400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:56827800-56842600	Weak transcription	Spleen	Spleen
24	chr12:56828000-56841200	Weak transcription	A549	lung
25	chr12:56828000-56841200	Weak transcription	GM12878-XiMat	blood
26	chr12:56828000-56841400	Weak transcription	Liver	Liver
27	chr12:56828000-56842200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:56828000-56842400	Weak transcription	Fetal Thymus	thymus
29	chr12:56828000-56842400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr12:56828000-56842400	Weak transcription	Thymus	Thymus
31	chr12:56828200-56841200	Weak transcription	Hela-S3	cervix
32	chr12:56828600-56838400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:56829000-56838000	Weak transcription	Dnd41	blood
34	chr12:56832200-56838400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:56836000-56838800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
36	chr12:56836200-56838800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
37	chr12:56836200-56841600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:56836400-56838000	Weak transcription	K562	blood
39	chr12:56836400-56838200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:56836600-56837800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:56836600-56838400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr12:56836600-56842400	Weak transcription	HMEC	breast
43	chr12:56836800-56837800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:56836800-56838800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:56836800-56838800	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr12:56837000-56838000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:56837000-56842600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:56837200-56838000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:56837200-56838600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:56837400-56837600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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