Variant report

Variant	rs2591074
Chromosome Location	chr15:57592914-57592915
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RELA	chr15:57591857-57592952	GM15510	blood:	n/a	chr15:57592123-57592132 chr15:57592123-57592132
2	CTCF	chr15:57592820-57592970	GM12864	blood:	n/a	n/a
3	CTCF	chr15:57592817-57593032	GM12878	blood:	n/a	n/a
4	BHLHE40	chr15:57592779-57592966	K562	blood:	n/a	n/a
5	POLR2A	chr15:57591325-57596303	NB4	blood:	n/a	n/a
6	MAX	chr15:57591131-57593104	NB4	blood:	n/a	n/a
7	MYC	chr15:57591905-57593043	NB4	blood:	n/a	n/a
8	RELA	chr15:57591673-57593287	GM19193	blood:	n/a	chr15:57592123-57592132 chr15:57592123-57592132
9	NFYB	chr15:57592781-57593080	GM12878	blood:	n/a	n/a
10	CTCF	chr15:57592820-57592970	GM06990	blood:	n/a	n/a
11	POLR2A	chr15:57591446-57594099	GM12891	blood:	n/a	n/a
12	WRNIP1	chr15:57592871-57594067	GM12878	blood:	n/a	n/a
13	POLR2A	chr15:57591872-57592914	GM19099	blood:	n/a	n/a
14	BHLHE40	chr15:57591928-57593506	GM12878	blood:	n/a	n/a
15	CTCF	chr15:57592800-57592950	GM12873	blood:	n/a	n/a
16	RELA	chr15:57591779-57592998	GM18505	blood:	n/a	chr15:57592123-57592132 chr15:57592123-57592132
17	ZNF143	chr15:57592879-57593079	GM12878	blood:	n/a	n/a
18	POLR2A	chr15:57591152-57593018	GM19193	blood:	n/a	n/a
19	CTCF	chr15:57592780-57592930	GM12869	blood:	n/a	n/a
20	RUNX3	chr15:57592848-57593497	GM12878	blood:	n/a	n/a
21	RELA	chr15:57591502-57592979	GM19099	blood:	n/a	chr15:57592123-57592132 chr15:57592123-57592132
22	CTCF	chr15:57592800-57592950	GM12870	blood:	n/a	n/a
23	CTCF	chr15:57592820-57592970	GM12871	blood:	n/a	n/a
24	CTCF	chr15:57592838-57592921	GM19239	blood:	n/a	n/a
25	RELA	chr15:57591638-57593023	GM18951	blood:	n/a	chr15:57592123-57592132 chr15:57592123-57592132
26	POLR2A	chr15:57591163-57594122	GM12878	blood:	n/a	n/a
27	POLR2A	chr15:57592686-57593209	HL-60	blood:	n/a	n/a
28	POLR2A	chr15:57592667-57596467	HL-60	blood:	n/a	n/a
29	CTCF	chr15:57592780-57592930	GM12873	blood:	n/a	n/a
30	CTCF	chr15:57592800-57592950	GM12872	blood:	n/a	n/a
31	CTCF	chr15:57592820-57592970	GM12875	blood:	n/a	n/a
32	POLR2A	chr15:57591597-57593159	Raji	blood:	n/a	n/a
33	REST	chr15:57592723-57593217	HL-60	blood:	n/a	n/a
34	POLR2A	chr15:57592643-57593021	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57588417..57590307-chr15:57592744..57595404,2	K562	blood:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCF12-1	chr15:57592563-57593122	ENSG00000247982
2	lnc-TCF12-1	chr15:57592563-57593122	XLOC_011264
3	lnc-TCF12-1	chr15:57592039-57593122	XLOC_011264
4	lnc-TCF12-1	chr15:57592503-57593122	XLOC_011264
5	lnc-TCF12-1	chr15:57592039-57593122	XLOC_011264
6	lnc-TCF12-1	chr15:57592198-57595211	XLOC_011264
7	lnc-TCF12-1	chr15:57592503-57593122	XLOC_011264
8	lnc-TCF12-1	chr15:57592705-57593122	XLOC_011264
9	lnc-TCF12-1	chr15:57592563-57593122	XLOC_011264
10	lnc-TCF12-1	chr15:57592286-57593122	XLOC_011264
11	lnc-TCF12-1	chr15:57592503-57593122	XLOC_011264
12	lnc-TCF12-1	chr15:57592549-57593122	XLOC_011264
13	lnc-TCF12-1	chr15:57592503-57593122	XLOC_011264
14	lnc-TCF12-1	chr15:57592563-57593122	NONHSAT044062
15	lnc-TCF12-1	chr15:57592516-57593122	NONHSAT044059

No data

Variant related genes	Relation type
LINC00926	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1020890	1.00[AMR][1000 genomes]
rs10518903	1.00[AMR][1000 genomes]
rs12101548	1.00[AMR][1000 genomes]
rs12102210	1.00[AMR][1000 genomes]
rs1350906	1.00[AMR][1000 genomes]
rs1381557	1.00[AMR][1000 genomes]
rs1462155	1.00[AMR][1000 genomes]
rs16977249	1.00[AMR][1000 genomes]
rs16977287	1.00[AMR][1000 genomes]
rs16977313	1.00[AMR][1000 genomes]
rs16977318	1.00[AMR][1000 genomes]
rs16977342	1.00[AMR][1000 genomes]
rs16977346	1.00[AMR][1000 genomes]
rs16977350	1.00[AMR][1000 genomes]
rs16977357	1.00[AMR][1000 genomes]
rs16977361	1.00[AMR][1000 genomes]
rs16977392	1.00[AMR][1000 genomes]
rs16977394	1.00[AMR][1000 genomes]
rs2011721	1.00[AMR][1000 genomes]
rs2126399	1.00[AMR][1000 genomes]
rs2248255	1.00[AMR][1000 genomes]
rs2591072	1.00[AMR][1000 genomes]
rs2615216	1.00[AMR][1000 genomes]
rs2615232	1.00[AMR][1000 genomes]
rs2733302	1.00[AMR][1000 genomes]
rs28404473	1.00[AMR][1000 genomes]
rs28495648	1.00[AMR][1000 genomes]
rs59762811	1.00[AMR][1000 genomes]
rs60129657	1.00[AMR][1000 genomes]
rs8031933	1.00[AMR][1000 genomes]
rs8037049	1.00[AMR][1000 genomes]
rs8039780	1.00[AMR][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	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv833021	chr15:57495413-57751366	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv526342	chr15:57565859-57597280	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57537800-57598200	Weak transcription	Colonic Mucosa	Colon
2	chr15:57578600-57598200	Weak transcription	Right Ventricle	heart
3	chr15:57579600-57598200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr15:57579800-57595000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr15:57580000-57598400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr15:57580000-57598400	Weak transcription	Fetal Brain Male	brain
7	chr15:57580000-57598400	Weak transcription	NHEK	skin
8	chr15:57580600-57594800	Weak transcription	HepG2	liver
9	chr15:57581600-57595000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:57583400-57595000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:57583400-57598400	Weak transcription	Thymus	Thymus
12	chr15:57583600-57598000	Weak transcription	Liver	Liver
13	chr15:57583600-57598200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr15:57583600-57598400	Weak transcription	A549	lung
15	chr15:57583800-57595400	Weak transcription	Aorta	Aorta
16	chr15:57583800-57596800	Weak transcription	Fetal Intestine Large	intestine
17	chr15:57584000-57598200	Weak transcription	Brain Germinal Matrix	brain
18	chr15:57584400-57598000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr15:57584400-57598200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr15:57584600-57594600	Weak transcription	Primary T cells from cord blood	blood
21	chr15:57584600-57598200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr15:57584600-57598200	Weak transcription	Fetal Stomach	stomach
23	chr15:57585000-57598400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr15:57585600-57598000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:57585800-57598200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:57588400-57593000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr15:57589200-57598200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:57589400-57594800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr15:57589400-57595000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr15:57589400-57598200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr15:57589400-57598200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:57589600-57595200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr15:57589600-57598200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:57589600-57598400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:57590000-57597000	Weak transcription	Fetal Intestine Small	intestine
36	chr15:57590000-57598200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:57590000-57598200	Weak transcription	Pancreas	Pancrea
38	chr15:57590400-57593600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr15:57590800-57598200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr15:57591000-57598000	Weak transcription	Brain Anterior Caudate	brain
41	chr15:57591200-57593000	Enhancers	Lung	lung
42	chr15:57591600-57595400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr15:57591600-57598200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr15:57591800-57596800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr15:57591800-57598000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr15:57592000-57598000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:57592000-57598400	Weak transcription	HSMMtube	muscle
48	chr15:57592200-57597400	Weak transcription	Fetal Muscle Leg	muscle
49	chr15:57592200-57598200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr15:57592200-57598400	Weak transcription	HMEC	breast

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