Variant report

Variant	rs2723875
Chromosome Location	chr12:104368449-104368450
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104324051..104325683-chr12:104367273..104370218,2	K562	blood:

Variant related genes	Relation type
ENSG00000265072	Chromatin interaction
ENSG00000166598	Chromatin interaction

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

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

rs_ID	r²[population]
rs10861152	1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17034943	0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3751209	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4135092	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4135122	0.90[ASN][1000 genomes]
rs4964435	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][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

No data

Chromatin state (count:127 , 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	chr12:104361000-104368800	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:104361000-104370800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:104361000-104371000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr12:104361000-104371000	Weak transcription	Fetal Kidney	kidney
11	chr12:104361000-104372000	Weak transcription	Stomach Mucosa	stomach
12	chr12:104361200-104369400	Weak transcription	Right Atrium	heart
13	chr12:104361200-104370400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:104361200-104370800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:104361200-104370800	Weak transcription	Fetal Lung	lung
16	chr12:104361200-104371000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:104361200-104371000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:104361200-104379400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:104361600-104385000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:104361800-104371200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:104362000-104369400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:104362000-104373800	Weak transcription	Psoas Muscle	Psoas
23	chr12:104362000-104382600	Weak transcription	Esophagus	oesophagus
24	chr12:104362000-104384400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:104362000-104392800	Weak transcription	Fetal Brain Male	brain
26	chr12:104362200-104370800	Weak transcription	Adipose Nuclei	Adipose
27	chr12:104362200-104371200	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:104362200-104384800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:104362400-104369200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr12:104362400-104371000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:104362400-104371000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr12:104362400-104371200	Weak transcription	Brain Germinal Matrix	brain
33	chr12:104362400-104371400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:104362400-104378000	Weak transcription	Small Intestine	intestine
35	chr12:104362600-104371000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:104362600-104371000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:104363200-104370200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:104363200-104371000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:104363400-104369000	Weak transcription	Fetal Heart	heart
40	chr12:104363400-104371200	Weak transcription	Brain Substantia Nigra	brain
41	chr12:104363400-104371200	Weak transcription	Fetal Brain Female	brain
42	chr12:104363400-104371400	Weak transcription	Spleen	Spleen
43	chr12:104363600-104369800	Weak transcription	Primary T cells from cord blood	blood
44	chr12:104363600-104370600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:104363600-104370600	Weak transcription	HSMMtube	muscle
46	chr12:104363600-104371000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:104363600-104371000	Weak transcription	Brain Anterior Caudate	brain
48	chr12:104363600-104371000	Weak transcription	Gastric	stomach
49	chr12:104363600-104371000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:104363600-104371000	Weak transcription	Thymus	Thymus

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