Variant report

Variant	rs5745812
Chromosome Location	chr12:118457373-118457374
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118453682..118456456-chr12:118457089..118459340,6	K562	blood:
2	chr12:118453241..118455351-chr12:118455702..118457982,2	MCF-7	breast:
3	chr12:118456855..118459232-chr12:118466766..118469608,2	MCF-7	breast:
4	chr12:118450883..118457954-chr12:118495063..118502199,13	K562	blood:
5	chr12:118405465..118406989-chr12:118456855..118459029,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171435	Chromatin interaction
ENSG00000111445	Chromatin interaction
ENSG00000176871	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs5745806	0.89[ASW][hapmap];0.81[LWK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs5745807	1.00[YRI][hapmap]
rs5745817	0.90[AFR][1000 genomes]
rs5745821	0.90[AFR][1000 genomes]
rs57757552	1.00[AMR][1000 genomes]
rs58622345	1.00[AMR][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	nsv560388	chr12:118391600-118482352	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118455000-118457800	Weak transcription	Aorta	Aorta
2	chr12:118455200-118457400	Weak transcription	Esophagus	oesophagus
3	chr12:118455200-118462400	Weak transcription	Psoas Muscle	Psoas
4	chr12:118455200-118472800	Weak transcription	Right Atrium	heart
5	chr12:118455200-118497400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:118455400-118457400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:118455400-118457400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:118455600-118457400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:118455600-118457600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr12:118455600-118457600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:118455600-118458800	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:118455600-118460400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:118455600-118461000	Weak transcription	HSMM	muscle
14	chr12:118455600-118462600	Weak transcription	HSMMtube	muscle
15	chr12:118455600-118462800	Weak transcription	NH-A	brain
16	chr12:118455600-118490200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr12:118455800-118457400	Weak transcription	Fetal Intestine Small	intestine
18	chr12:118455800-118457800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:118455800-118457800	Weak transcription	Colonic Mucosa	Colon
20	chr12:118455800-118458000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:118455800-118458200	Strong transcription	Fetal Kidney	kidney
22	chr12:118455800-118458400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:118455800-118462600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:118455800-118462600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:118455800-118462600	Weak transcription	Small Intestine	intestine
26	chr12:118455800-118463800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:118455800-118469600	Weak transcription	Fetal Brain Male	brain
28	chr12:118455800-118471800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:118455800-118476000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:118455800-118485000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:118455800-118490000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:118456000-118457600	Weak transcription	Thymus	Thymus
33	chr12:118456000-118458000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:118456000-118458000	Weak transcription	HUVEC	blood vessel
35	chr12:118456000-118458800	Strong transcription	Osteobl	bone
36	chr12:118456000-118460000	Weak transcription	NHDF-Ad	bronchial
37	chr12:118456000-118460800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:118456000-118478000	Weak transcription	Fetal Heart	heart
39	chr12:118456000-118482800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr12:118456000-118484600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:118456000-118490200	Strong transcription	Fetal Stomach	stomach
42	chr12:118456200-118457400	Weak transcription	NHEK	skin
43	chr12:118456200-118458200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:118456200-118462800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:118456200-118471000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr12:118456200-118472400	Strong transcription	A549	lung
47	chr12:118456200-118484000	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr12:118456200-118484200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:118456200-118484600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:118456200-118490000	Strong transcription	Fetal Muscle Leg	muscle

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