Variant report

Variant	rs73324304
Chromosome Location	chr12:56632974-56632975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56632067..56634668-chr12:56642933..56645753,2	K562	blood:
2	chr12:56631105..56633650-chr12:56637354..56639023,2	K562	blood:
3	chr12:56632924..56644144-chr12:56648283..56654213,19	MCF-7	breast:
4	chr12:56631661..56634277-chr12:56660428..56663054,2	MCF-7	breast:
5	chr12:56622689..56625267-chr12:56629999..56633597,3	MCF-7	breast:
6	chr12:56632606..56634842-chr12:56652248..56653758,2	K562	blood:
7	chr12:56614621..56619222-chr12:56632671..56636371,4	MCF-7	breast:
8	chr12:56510079..56511739-chr12:56632646..56635348,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139540	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000139579	Chromatin interaction
ENSG00000139645	Chromatin interaction
ENSG00000181852	Chromatin interaction
ENSG00000135469	Chromatin interaction

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

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

rs_ID	r²[population]
rs11837183	1.00[EUR][1000 genomes]
rs17118200	1.00[EUR][1000 genomes]
rs2035949	1.00[EUR][1000 genomes]
rs58717357	1.00[EUR][1000 genomes]
rs60740107	1.00[EUR][1000 genomes]
rs7305481	1.00[EUR][1000 genomes]
rs901073	1.00[EUR][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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56618600-56633800	Weak transcription	Aorta	Aorta
2	chr12:56618800-56633000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:56618800-56633000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr12:56618800-56634600	Weak transcription	Psoas Muscle	Psoas
5	chr12:56618800-56635200	Weak transcription	Small Intestine	intestine
6	chr12:56618800-56635400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:56618800-56637800	Weak transcription	Fetal Kidney	kidney
8	chr12:56619000-56633000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:56619000-56633200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:56619000-56633400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:56619000-56633600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:56619000-56634000	Weak transcription	Primary B cells from cord blood	blood
13	chr12:56619000-56634800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:56619200-56633000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:56619200-56633000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:56619200-56633000	Weak transcription	Left Ventricle	heart
17	chr12:56619200-56633400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:56619200-56633400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:56619200-56634400	Weak transcription	Fetal Lung	lung
20	chr12:56619200-56634600	Weak transcription	HUVEC	blood vessel
21	chr12:56619200-56635000	Weak transcription	HSMM	muscle
22	chr12:56619200-56635400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:56619200-56637600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:56619400-56634600	Weak transcription	NH-A	brain
25	chr12:56619400-56637200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:56619400-56637800	Weak transcription	Right Atrium	heart
27	chr12:56619600-56634600	Weak transcription	HMEC	breast
28	chr12:56619600-56635600	Weak transcription	GM12878-XiMat	blood
29	chr12:56619600-56638000	Weak transcription	Hela-S3	cervix
30	chr12:56619800-56638800	Weak transcription	Fetal Brain Male	brain
31	chr12:56620200-56633800	Weak transcription	Brain Substantia Nigra	brain
32	chr12:56621600-56633000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:56621600-56633000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:56623200-56633200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr12:56624400-56646000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:56625200-56638400	Weak transcription	Stomach Mucosa	stomach
37	chr12:56626800-56634400	Weak transcription	HepG2	liver
38	chr12:56626800-56636600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr12:56627600-56634800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr12:56627800-56636400	Strong transcription	Fetal Intestine Small	intestine
41	chr12:56628000-56633400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr12:56628600-56644600	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:56628600-56649800	Strong transcription	Fetal Stomach	stomach
44	chr12:56628800-56637800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr12:56629000-56633200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:56629000-56649400	Strong transcription	Thymus	Thymus
47	chr12:56629000-56650400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr12:56629200-56635200	Weak transcription	K562	blood
49	chr12:56629200-56649600	Strong transcription	Brain Germinal Matrix	brain
50	chr12:56629200-56650000	Strong transcription	Liver	Liver

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