Variant report

Variant	rs12095969
Chromosome Location	chr1:165743081-165743082
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr1:165741808-165743132	K562	blood:	n/a	n/a
2	GATA3	chr1:165742508-165743084	SK-N-SH	brain:	n/a	n/a
3	NR2F2	chr1:165742523-165743085	K562	blood:	n/a	n/a
4	GATA3	chr1:165742371-165743096	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr1:165742817-165743118	HepG2	liver:	n/a	n/a
6	SP1	chr1:165742579-165743143	HCT-116	colon:	n/a	n/a
7	JUND	chr1:165742464-165743121	HCT-116	colon:	n/a	n/a
8	GATA3	chr1:165742399-165743182	A549	lung:	n/a	n/a
9	MXI1	chr1:165742570-165743343	IMR90	lung:	n/a	n/a
10	NR3C1	chr1:165742597-165743166	A549	lung:	n/a	n/a
11	FOS	chr1:165742553-165743149	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr1:165742655-165743102	Hela-S3	cervix:	n/a	n/a
13	NR3C1	chr1:165742797-165743233	A549	lung:	n/a	n/a
14	FOSL1	chr1:165742399-165743112	HCT-116	colon:	n/a	n/a
15	ZNF384	chr1:165741800-165743152	K562	blood:	n/a	n/a
16	MAFK	chr1:165742307-165743233	K562	blood:	n/a	chr1:165742366-165742381
17	RCOR1	chr1:165742556-165743208	IMR90	lung:	n/a	n/a
18	CBX3	chr1:165742490-165743097	K562	blood:	n/a	n/a
19	MAX	chr1:165742455-165743210	A549	lung:	n/a	n/a
20	TEAD4	chr1:165742415-165743116	SK-N-SH	brain:	n/a	n/a
21	MAX	chr1:165742521-165743103	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:165735886..165744990-chr1:165791702..165805629,42	K562	blood:
2	chr1:165741744..165743826-chr1:165797591..165799642,2	MCF-7	breast:
3	chr1:165742597..165744682-chr1:165785912..165787963,2	K562	blood:
4	chr1:165736876..165739888-chr1:165742992..165745550,3	K562	blood:
5	chr1:165740871..165743661-chr1:198569825..198571369,2	K562	blood:
6	chr1:165742325..165744109-chr1:165745631..165747315,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UCK2-1	chr1:165742711-165744413	ENSG00000224358
2	lnc-UCK2-1	chr1:165742711-165743670	NONHSAT007334
3	lnc-UCK2-1	chr1:165742669-165743564	NONHSAT007336

No data

Variant related genes	Relation type
TMCO1	TF binding region
ENSG00000224358	Chromatin interaction
ENSG00000143179	Chromatin interaction
ENSG00000143183	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10918275	0.81[YRI][hapmap]
rs12059327	1.00[ASW][hapmap];0.81[YRI][hapmap]
rs12084371	0.81[YRI][hapmap]
rs12095041	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095440	1.00[ASW][hapmap]
rs16849835	0.87[ASW][hapmap]
rs16850119	0.81[YRI][hapmap]
rs41510944	1.00[ASW][hapmap]
rs6683657	0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165738800-165744800	Weak transcription	Spleen	Spleen
2	chr1:165738800-165745200	Weak transcription	Gastric	stomach
3	chr1:165739000-165745000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:165739000-165745200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:165739200-165743200	Weak transcription	Brain Germinal Matrix	brain
6	chr1:165739200-165743200	Weak transcription	Placenta	Placenta
7	chr1:165739200-165743200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:165739200-165743200	Weak transcription	Thymus	Thymus
9	chr1:165739200-165744600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:165739200-165744800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:165739200-165745200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:165739200-165745400	Weak transcription	Brain Anterior Caudate	brain
13	chr1:165739200-165745400	Weak transcription	Right Ventricle	heart
14	chr1:165739200-165745600	Weak transcription	Fetal Intestine Small	intestine
15	chr1:165739200-165745600	Weak transcription	Lung	lung
16	chr1:165739200-165746000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:165739400-165743600	Weak transcription	Small Intestine	intestine
18	chr1:165739400-165744400	Weak transcription	Left Ventricle	heart
19	chr1:165739400-165744600	Weak transcription	Primary B cells from cord blood	blood
20	chr1:165739400-165744800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr1:165739400-165744800	Weak transcription	Fetal Lung	lung
22	chr1:165739400-165745600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:165739600-165743200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:165739600-165743400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr1:165739600-165743400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:165739600-165744200	Weak transcription	Aorta	Aorta
27	chr1:165739600-165744600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:165739600-165744600	Weak transcription	Fetal Brain Male	brain
29	chr1:165739600-165744800	Weak transcription	Primary T cells from cord blood	blood
30	chr1:165739600-165744800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr1:165739600-165745000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:165739600-165745400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:165739600-165745400	Weak transcription	Pancreas	Pancrea
34	chr1:165739600-165745600	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:165740000-165745200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:165740000-165745400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr1:165740000-165747800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr1:165740200-165744000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr1:165740200-165744600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:165740200-165744600	Weak transcription	Dnd41	blood
41	chr1:165740200-165744800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:165740200-165744800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:165740200-165744800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:165740200-165745400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:165740200-165745400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:165740200-165745600	Weak transcription	Liver	Liver
47	chr1:165740200-165745600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:165740400-165743800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr1:165741000-165745600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:165741200-165743200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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