Variant report

Variant	rs322110
Chromosome Location	chr12:104370053-104370054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:104369839-104370229	K562	blood:	n/a	n/a
2	POLR2A	chr12:104369790-104370249	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:104369819-104370378	GM12892	blood:	n/a	n/a
4	POLR2A	chr12:104369925-104370302	GM12892	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104348589..104351037-chr12:104369776..104372245,2	MCF-7	breast:
2	chr12:104370024..104373447-chr12:104374664..104377599,4	K562	blood:
3	chr12:104369091..104370992-chr12:104385433..104387266,2	K562	blood:
4	chr12:104362237..104366185-chr12:104369419..104371303,3	MCF-7	breast:
5	chr12:104369082..104370853-chr12:104372418..104374505,3	K562	blood:
6	chr12:104324051..104325683-chr12:104367273..104370218,2	K562	blood:

No data

Variant related genes	Relation type
TDG	TF binding region
ENSG00000139372	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000204954	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1177458	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs172814	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2254063	0.82[EUR][1000 genomes]
rs2254064	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2576973	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2583227	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2583251	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2583260	1.00[EUR][1000 genomes]
rs2583261	0.89[AFR][1000 genomes]
rs2583263	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2583277	0.83[EUR][1000 genomes]
rs2629768	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2629770	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2629771	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2629779	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2700510	0.91[AFR][1000 genomes]
rs2722200	0.91[AFR][1000 genomes]
rs2723846	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723847	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs322102	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs322105	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs322106	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs322107	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs322108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs784081	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs796736	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3359723	chr12:104359646-104370785	Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs322110	KRTHB5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104360800-104371200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:104360800-104371200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:104360800-104371200	Weak transcription	Colonic Mucosa	Colon
4	chr12:104360800-104371800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:104360800-104378600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:104360800-104381000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:104361000-104370800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:104361000-104371000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:104361000-104371000	Weak transcription	Fetal Kidney	kidney
10	chr12:104361000-104372000	Weak transcription	Stomach Mucosa	stomach
11	chr12:104361200-104370400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:104361200-104370800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:104361200-104370800	Weak transcription	Fetal Lung	lung
14	chr12:104361200-104371000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:104361200-104371000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:104361200-104379400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:104361600-104385000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:104361800-104371200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr12:104362000-104373800	Weak transcription	Psoas Muscle	Psoas
20	chr12:104362000-104382600	Weak transcription	Esophagus	oesophagus
21	chr12:104362000-104384400	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:104362000-104392800	Weak transcription	Fetal Brain Male	brain
23	chr12:104362200-104370800	Weak transcription	Adipose Nuclei	Adipose
24	chr12:104362200-104371200	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:104362200-104384800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:104362400-104371000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:104362400-104371000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:104362400-104371200	Weak transcription	Brain Germinal Matrix	brain
29	chr12:104362400-104371400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:104362400-104378000	Weak transcription	Small Intestine	intestine
31	chr12:104362600-104371000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:104362600-104371000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:104363200-104370200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:104363200-104371000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr12:104363400-104371200	Weak transcription	Brain Substantia Nigra	brain
36	chr12:104363400-104371200	Weak transcription	Fetal Brain Female	brain
37	chr12:104363400-104371400	Weak transcription	Spleen	Spleen
38	chr12:104363600-104370600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:104363600-104370600	Weak transcription	HSMMtube	muscle
40	chr12:104363600-104371000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:104363600-104371000	Weak transcription	Brain Anterior Caudate	brain
42	chr12:104363600-104371000	Weak transcription	Gastric	stomach
43	chr12:104363600-104371000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:104363600-104371000	Weak transcription	Thymus	Thymus
45	chr12:104363600-104371200	Weak transcription	Aorta	Aorta
46	chr12:104363600-104371200	Weak transcription	Brain Angular Gyrus	brain
47	chr12:104363800-104370400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:104363800-104370600	Weak transcription	NH-A	brain
49	chr12:104363800-104370800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr12:104363800-104370800	Weak transcription	Liver	Liver

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