Variant report

Variant	rs7954870
Chromosome Location	chr12:44143149-44143150
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:44141688..44143709-chr12:44150938..44153304,2	MCF-7	breast:
2	chr12:44142791..44144334-chr12:44150541..44153154,2	MCF-7	breast:
3	chr12:44143073..44149154-chr12:44149201..44155670,10	K562	blood:
4	chr12:44125307..44128084-chr12:44142439..44144461,2	K562	blood:
5	chr12:44124584..44128084-chr12:44141589..44144461,3	K562	blood:

Variant related genes	Relation type
ENSG00000129317	Chromatin interaction
ENSG00000198001	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1057190	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10880552	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10880553	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10880554	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10880555	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10880556	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10880557	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10880558	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10880559	0.89[AMR][1000 genomes]
rs10880562	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10880563	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10880565	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10880566	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11182240	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11182242	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11182246	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11182249	0.88[AMR][1000 genomes]
rs11182250	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12302873	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12308611	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12310585	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12312327	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12315211	1.00[ASN][1000 genomes]
rs12319024	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17093639	1.00[ASN][1000 genomes]
rs3794262	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3805198	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4251459	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4251460	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4251465	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4251496	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4251497	0.90[EUR][1000 genomes]
rs4251527	0.82[EUR][1000 genomes]
rs4251532	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4251533	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4251555	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7311465	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7969729	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7979691	1.00[ASN][1000 genomes]
rs9783418	0.94[AMR][1000 genomes];0.96[EUR][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	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44117400-44151400	Weak transcription	Brain Substantia Nigra	brain
2	chr12:44117800-44144600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:44119400-44146000	Weak transcription	Aorta	Aorta
4	chr12:44119800-44146000	Weak transcription	Fetal Brain Female	brain
5	chr12:44119800-44147000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:44120000-44151600	Weak transcription	Gastric	stomach
7	chr12:44120200-44151600	Weak transcription	Lung	lung
8	chr12:44122000-44147400	Weak transcription	Psoas Muscle	Psoas
9	chr12:44122600-44147400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:44122600-44152000	Weak transcription	Left Ventricle	heart
11	chr12:44122800-44151000	Weak transcription	Fetal Brain Male	brain
12	chr12:44123400-44151600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:44123600-44151400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:44125000-44151400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:44125000-44151400	Weak transcription	HUVEC	blood vessel
16	chr12:44126200-44145800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:44126200-44150400	Weak transcription	Small Intestine	intestine
18	chr12:44126400-44146000	Weak transcription	Esophagus	oesophagus
19	chr12:44126400-44151600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:44126400-44151600	Weak transcription	Colonic Mucosa	Colon
21	chr12:44126400-44151600	Weak transcription	Right Ventricle	heart
22	chr12:44126600-44147200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:44127200-44151600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:44128600-44151600	Weak transcription	Spleen	Spleen
25	chr12:44128800-44151400	Weak transcription	Brain Angular Gyrus	brain
26	chr12:44130400-44146200	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:44130400-44150200	Weak transcription	Stomach Mucosa	stomach
28	chr12:44130600-44151000	Weak transcription	Pancreas	Pancrea
29	chr12:44130600-44151400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:44130600-44151600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:44130600-44151600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:44130600-44151800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:44130800-44146000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr12:44130800-44146000	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:44130800-44147800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr12:44131000-44146000	Weak transcription	Fetal Kidney	kidney
37	chr12:44131000-44146000	Weak transcription	Ovary	ovary
38	chr12:44131000-44151400	Weak transcription	Hela-S3	cervix
39	chr12:44131000-44151600	Weak transcription	Thymus	Thymus
40	chr12:44131800-44147200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:44132400-44146000	Weak transcription	NHEK	skin
42	chr12:44132600-44151400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr12:44133200-44151600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:44135000-44151400	Weak transcription	Fetal Stomach	stomach
45	chr12:44136200-44146000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:44136400-44151400	Weak transcription	Fetal Heart	heart
47	chr12:44136400-44151600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr12:44137000-44143800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:44137000-44146000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr12:44137000-44146000	Weak transcription	HSMMtube	muscle

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