Variant report

Variant	rs7310423
Chromosome Location	chr12:104349525-104349526
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104348297..104351124-chr12:104530392..104533056,3	MCF-7	breast:
2	chr12:104233713..104237034-chr12:104348727..104352026,4	MCF-7	breast:
3	chr12:104234122..104238773-chr12:104347839..104352988,5	MCF-7	breast:
4	chr12:104348328..104351209-chr12:104680724..104683661,2	K562	blood:
5	chr12:104320418..104331406-chr12:104346801..104355501,25	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257327	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000111696	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000214198	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10507172	0.98[ASN][1000 genomes]
rs10507173	0.98[ASN][1000 genomes]
rs10861147	0.89[ASN][1000 genomes]
rs10861148	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11111858	0.95[ASN][1000 genomes]
rs11111862	0.90[ASN][1000 genomes]
rs11111863	0.91[ASN][1000 genomes]
rs1437502	0.90[ASN][1000 genomes]
rs2164747	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2293620	0.95[ASN][1000 genomes]
rs2293624	0.98[ASN][1000 genomes]
rs3751210	0.83[ASN][1000 genomes]
rs3829301	0.92[ASN][1000 genomes]
rs4135052	0.95[ASN][1000 genomes]
rs4135054	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4135068	0.90[ASN][1000 genomes]
rs4135079	0.93[ASN][1000 genomes]
rs4135102	0.88[ASN][1000 genomes]
rs4135103	0.88[ASN][1000 genomes]
rs4135109	0.88[ASN][1000 genomes]
rs4135113	0.83[ASN][1000 genomes]
rs4135115	0.83[ASN][1000 genomes]
rs4135126	0.83[ASN][1000 genomes]
rs57179875	0.95[ASN][1000 genomes]
rs60696717	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61069788	0.86[ASN][1000 genomes]
rs73388292	0.98[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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7310423	KRTHB5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104325600-104349800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:104334000-104349600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:104337000-104350000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:104344400-104349600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:104346200-104349800	Weak transcription	Right Atrium	heart
6	chr12:104347200-104349600	Weak transcription	Fetal Heart	heart
7	chr12:104347400-104349600	Weak transcription	Colonic Mucosa	Colon
8	chr12:104347400-104349800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:104347600-104349600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:104347600-104349800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:104347600-104349800	Weak transcription	Esophagus	oesophagus
12	chr12:104347600-104350000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:104347800-104349600	Weak transcription	Stomach Mucosa	stomach
14	chr12:104347800-104349800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:104348000-104349800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr12:104348200-104349600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:104348200-104349600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:104348200-104349600	Weak transcription	HSMM	muscle
19	chr12:104348200-104349600	Weak transcription	NHDF-Ad	bronchial
20	chr12:104348200-104349800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:104348400-104349600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:104348400-104349600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:104348400-104349600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr12:104348400-104349600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:104348400-104349600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:104348400-104349600	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:104348400-104349600	Weak transcription	Brain Substantia Nigra	brain
28	chr12:104348400-104349600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:104348400-104349600	Weak transcription	Thymus	Thymus
30	chr12:104348400-104349600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr12:104348400-104349800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr12:104348400-104349800	Weak transcription	Lung	lung
33	chr12:104348400-104349800	Weak transcription	Pancreas	Pancrea
34	chr12:104348400-104349800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr12:104348400-104350000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:104348400-104350000	Weak transcription	Aorta	Aorta
37	chr12:104348400-104350200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:104348600-104349600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:104348600-104349600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr12:104348600-104349600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:104348600-104349600	Weak transcription	Brain Angular Gyrus	brain
42	chr12:104348600-104349600	Weak transcription	Brain Anterior Caudate	brain
43	chr12:104348600-104349600	Weak transcription	Fetal Kidney	kidney
44	chr12:104348600-104349800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:104348600-104349800	Weak transcription	Placenta	Placenta
46	chr12:104348600-104349800	Weak transcription	Ovary	ovary
47	chr12:104348600-104349800	Weak transcription	Spleen	Spleen
48	chr12:104348800-104349600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr12:104348800-104349600	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr12:104348800-104349600	Weak transcription	A549	lung

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