Variant report

Variant	rs7968164
Chromosome Location	chr12:50214191-50214192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50210017..50215332-chr12:50220398..50225792,6	MCF-7	breast:
2	chr12:50213961..50216545-chr12:50234924..50237715,2	MCF-7	breast:
3	chr12:50200740..50202923-chr12:50213695..50216667,2	MCF-7	breast:
4	chr12:50168706..50170738-chr12:50213916..50216913,2	MCF-7	breast:
5	chr12:50200354..50203165-chr12:50213791..50216673,2	K562	blood:
6	chr12:50200354..50204251-chr12:50212561..50215291,3	K562	blood:

Variant related genes	Relation type
ENSG00000258057	Chromatin interaction
ENSG00000167566	Chromatin interaction
ENSG00000186666	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10875977	1.00[ASN][1000 genomes]
rs11169164	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169165	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169171	1.00[ASN][1000 genomes]
rs12315844	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321190	1.00[ASN][1000 genomes]
rs17123990	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56751503	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57832845	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61691368	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137037	1.00[ASN][1000 genomes]
rs7137262	1.00[ASN][1000 genomes]
rs7313739	1.00[ASN][1000 genomes]
rs73309047	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309054	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309064	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309090	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73310907	0.95[EUR][1000 genomes];1.00[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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50187200-50214800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:50189200-50214600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:50193800-50214600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:50195200-50218400	Weak transcription	K562	blood
5	chr12:50195800-50214400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:50197600-50220400	Weak transcription	A549	lung
7	chr12:50199400-50218400	Weak transcription	HMEC	breast
8	chr12:50199600-50214600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:50199600-50214800	Weak transcription	Liver	Liver
10	chr12:50200000-50214600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:50200000-50214600	Weak transcription	Pancreas	Pancrea
12	chr12:50200000-50216800	Weak transcription	NHEK	skin
13	chr12:50200000-50219400	Weak transcription	Gastric	stomach
14	chr12:50200200-50214800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:50200400-50214400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr12:50200400-50215000	Weak transcription	Dnd41	blood
17	chr12:50202200-50217000	Weak transcription	HepG2	liver
18	chr12:50202200-50218400	Weak transcription	Fetal Brain Female	brain
19	chr12:50203000-50214600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:50203600-50218000	Weak transcription	NH-A	brain
21	chr12:50203600-50219800	Weak transcription	Aorta	Aorta
22	chr12:50203800-50214600	Weak transcription	Osteobl	bone
23	chr12:50203800-50215400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:50203800-50217800	Weak transcription	NHLF	lung
25	chr12:50203800-50218600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:50204200-50217800	Weak transcription	Fetal Brain Male	brain
27	chr12:50204400-50214600	Weak transcription	Fetal Intestine Small	intestine
28	chr12:50204400-50216600	Weak transcription	Brain Germinal Matrix	brain
29	chr12:50204400-50220200	Weak transcription	Fetal Kidney	kidney
30	chr12:50205000-50214600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:50205000-50214600	Weak transcription	Brain Angular Gyrus	brain
32	chr12:50205000-50215000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:50205000-50215200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:50205200-50214400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:50205200-50214600	Weak transcription	Lung	lung
36	chr12:50205200-50215000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr12:50205200-50215200	Weak transcription	Fetal Lung	lung
38	chr12:50205200-50219000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:50205200-50220000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:50205400-50214200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:50205600-50214400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr12:50205600-50214600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:50205600-50215200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:50205600-50216600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:50206800-50214600	Weak transcription	Primary B cells from cord blood	blood
46	chr12:50207200-50214400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr12:50208800-50221200	Weak transcription	Small Intestine	intestine
48	chr12:50210000-50215200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:50210000-50215200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:50210200-50214400	Weak transcription	Primary T cells fromperipheralblood	blood

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