Variant report

Variant	rs17043174
Chromosome Location	chr2:113277202-113277203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:113277034-113277295	K562	blood:	n/a	n/a
2	MAFK	chr2:113277106-113277443	K562	blood:	n/a	chr2:113277281-113277290
3	JUN	chr2:113277180-113277359	K562	blood:	n/a	n/a
4	EP300	chr2:113277152-113277295	K562	blood:	n/a	n/a
5	MAFF	chr2:113277080-113277454	K562	blood:	n/a	n/a
6	BACH1	chr2:113277122-113277353	K562	blood:	n/a	n/a
7	ZNF384	chr2:113276974-113277376	K562	blood:	n/a	n/a
8	YY1	chr2:113277121-113277353	K562	blood:	n/a	chr2:113277217-113277239 chr2:113277229-113277239 chr2:113277228-113277237

No.	Distal block	Cell Line	Cell type
1	chr2:113275893..113278850-chr2:113299428..113303764,5	K562	blood:
2	chr2:112641308..112643198-chr2:113276179..113278501,2	MCF-7	breast:
3	chr2:113275838..113278261-chr2:113340467..113342078,2	K562	blood:

Variant related genes	Relation type
TTL	TF binding region
ENSG00000125611	Chromatin interaction
ENSG00000125630	Chromatin interaction
ENSG00000153107	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs60300136	1.00[AMR][1000 genomes]
rs6731178	1.00[AMR][1000 genomes]
rs72946350	1.00[AMR][1000 genomes]
rs72946378	1.00[AMR][1000 genomes]
rs7606082	1.00[AMR][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	nsv949573	chr2:112986955-113320975	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113241000-113277800	Weak transcription	Colonic Mucosa	Colon
2	chr2:113241200-113277800	Weak transcription	Pancreas	Pancrea
3	chr2:113241200-113278000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:113241200-113286400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:113241400-113279200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:113241600-113292400	Weak transcription	Small Intestine	intestine
7	chr2:113241800-113286000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:113241800-113286200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:113252000-113277800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:113252200-113277800	Weak transcription	Psoas Muscle	Psoas
11	chr2:113253000-113277800	Weak transcription	Brain Substantia Nigra	brain
12	chr2:113253400-113277800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:113253800-113277800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:113260000-113277800	Weak transcription	Aorta	Aorta
15	chr2:113260600-113277800	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:113260600-113278000	Weak transcription	Ovary	ovary
17	chr2:113260800-113277600	Weak transcription	Brain Angular Gyrus	brain
18	chr2:113260800-113277800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:113260800-113277800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:113260800-113277800	Weak transcription	NHEK	skin
21	chr2:113260800-113279400	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:113260800-113286200	Weak transcription	Fetal Brain Male	brain
23	chr2:113260800-113298800	Weak transcription	Fetal Heart	heart
24	chr2:113267400-113290000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:113267600-113277800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr2:113268000-113277800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr2:113268000-113286400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:113269000-113277400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:113270600-113298800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:113271000-113286200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr2:113271400-113281400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:113271600-113281600	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:113272000-113280400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:113272600-113277800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:113272600-113287400	Weak transcription	Fetal Kidney	kidney
36	chr2:113272800-113277800	Weak transcription	GM12878-XiMat	blood
37	chr2:113272800-113280600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:113273000-113280400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:113273200-113277800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr2:113273200-113277800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:113273200-113278800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:113273200-113279000	Weak transcription	Hela-S3	cervix
43	chr2:113273200-113281400	Strong transcription	Fetal Stomach	stomach
44	chr2:113273400-113277600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:113273400-113278000	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr2:113273400-113279000	Weak transcription	Fetal Intestine Large	intestine
47	chr2:113273400-113281600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:113274200-113281000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:113274200-113281200	Strong transcription	Primary T cells from cord blood	blood
50	chr2:113274200-113281200	Strong transcription	Left Ventricle	heart

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