Variant report

Variant	rs60010120
Chromosome Location	chr12:51182109-51182110
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51177098..51179520-chr12:51179532..51182751,3	K562	blood:
2	chr12:51177098..51179722-chr12:51180352..51182751,3	K562	blood:
3	chr12:51179438..51182295-chr12:51203599..51205649,2	MCF-7	breast:
4	chr12:51155325..51162343-chr12:51172009..51182370,14	MCF-7	breast:
5	chr12:51167462..51169093-chr12:51179939..51182142,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs56994893	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60306316	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3497481	chr12:51150734-51185125	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
2	esv3497482	chr12:51151798-51185232	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
3	esv3386327	chr12:51154734-51184232	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
4	nsv899077	chr12:51160612-51188397	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51159200-51192600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:51159400-51192600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:51159600-51189200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:51159800-51189600	Weak transcription	Spleen	Spleen
5	chr12:51159800-51190400	Weak transcription	Fetal Kidney	kidney
6	chr12:51159800-51191200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:51160000-51189800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:51160000-51190800	Weak transcription	Right Ventricle	heart
9	chr12:51160200-51189600	Weak transcription	Pancreas	Pancrea
10	chr12:51160200-51189800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:51160800-51189600	Weak transcription	Brain Angular Gyrus	brain
12	chr12:51160800-51190600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:51161000-51189800	Weak transcription	Ovary	ovary
14	chr12:51164400-51189600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:51172600-51190600	Weak transcription	Fetal Brain Male	brain
16	chr12:51173000-51189600	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:51173200-51190000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:51175400-51192200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:51176000-51182600	Weak transcription	Brain Anterior Caudate	brain
20	chr12:51176000-51184400	Weak transcription	K562	blood
21	chr12:51176000-51189000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:51176000-51189400	Weak transcription	Adipose Nuclei	Adipose
23	chr12:51176000-51189400	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:51176200-51189600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr12:51176800-51189000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:51177400-51189200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:51178000-51182200	Strong transcription	Primary B cells from cord blood	blood
28	chr12:51178200-51184200	Enhancers	Placenta	Placenta
29	chr12:51178400-51192400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:51178600-51189000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:51178600-51189800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:51178800-51184200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:51178800-51192600	Weak transcription	Fetal Heart	heart
34	chr12:51179200-51182200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:51179200-51183000	Enhancers	HepG2	liver
36	chr12:51179400-51182200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:51179400-51182800	Strong transcription	Fetal Thymus	thymus
38	chr12:51179400-51183000	Strong transcription	Primary T cells from cord blood	blood
39	chr12:51179400-51183200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr12:51179600-51183200	Strong transcription	Fetal Muscle Trunk	muscle
41	chr12:51179600-51189400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:51179800-51189200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:51179800-51189600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:51180000-51182400	ZNF genes & repeats	Fetal Stomach	stomach
45	chr12:51180000-51182600	ZNF genes & repeats	Fetal Muscle Leg	muscle
46	chr12:51180000-51189600	Weak transcription	Left Ventricle	heart
47	chr12:51180000-51189600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr12:51180200-51189600	Weak transcription	Small Intestine	intestine
49	chr12:51180400-51182400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:51180600-51182200	ZNF genes & repeats	Brain Germinal Matrix	brain

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