Variant report

Variant	rs2293610
Chromosome Location	chr3:121643960-121643961
allele	C/T
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	KAP1	chr3:121643007-121644177	HEK293	kidney:	n/a	n/a
2	KAP1	chr3:121643164-121644033	U2OS	brain:	n/a	n/a
3	TAL1	chr3:121643090-121643968	K562	blood:	n/a	n/a
4	TEAD4	chr3:121643515-121643992	K562	blood:	n/a	chr3:121643649-121643658
5	RCOR1	chr3:121643600-121643985	K562	blood:	n/a	n/a
6	CEBPD	chr3:121643561-121644009	K562	blood:	n/a	n/a
7	GATA1	chr3:121643102-121644077	K562	blood:	n/a	chr3:121643334-121643350 chr3:121643270-121643277 chr3:121643918-121643927 chr3:121643270-121643279 chr3:121643337-121643346 chr3:121643267-121643277
8	TCF7L2	chr3:121643066-121643987	HEK293	kidney:	n/a	n/a
9	TEAD4	chr3:121643636-121644012	K562	blood:	n/a	chr3:121643649-121643658

Variant related genes	Relation type
SLC15A2	TF binding region
ENSG00000263678	TF binding region

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

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

rs_ID	r²[population]
rs36226548	1.00[AFR][1000 genomes]
rs72626329	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516233	chr3:121419301-121670405	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv877383	chr3:121465220-121650736	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv33139	chr3:121500400-122091831	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv877384	chr3:121601577-121659774	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121592800-121646800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr3:121613800-121647200	Weak transcription	Left Ventricle	heart
3	chr3:121615800-121671600	Weak transcription	Pancreas	Pancrea
4	chr3:121616200-121659400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:121624000-121647800	Weak transcription	Adipose Nuclei	Adipose
6	chr3:121625000-121661200	Weak transcription	Thymus	Thymus
7	chr3:121626200-121651600	Strong transcription	Primary B cells from peripheral blood	blood
8	chr3:121627400-121659200	Weak transcription	Lung	lung
9	chr3:121627400-121664600	Weak transcription	Aorta	Aorta
10	chr3:121627600-121645200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr3:121627600-121659200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:121628200-121659200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:121629800-121651400	Strong transcription	Primary B cells from cord blood	blood
14	chr3:121630200-121652200	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr3:121630400-121649600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr3:121631800-121664800	Weak transcription	Brain Angular Gyrus	brain
17	chr3:121633200-121661200	Weak transcription	Liver	Liver
18	chr3:121633400-121645200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:121633400-121646200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:121633600-121649000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:121633800-121661200	Weak transcription	Right Ventricle	heart
22	chr3:121634000-121651400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr3:121634000-121651600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr3:121634000-121660400	Weak transcription	Fetal Kidney	kidney
25	chr3:121634600-121646200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr3:121634600-121647000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr3:121634800-121649600	Weak transcription	Brain Anterior Caudate	brain
28	chr3:121634800-121667000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr3:121635000-121670600	Weak transcription	Brain Hippocampus Middle	brain
30	chr3:121635200-121666800	Weak transcription	Brain Substantia Nigra	brain
31	chr3:121635400-121647800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr3:121636400-121645400	Strong transcription	Primary hematopoietic stem cells	blood
33	chr3:121636800-121644000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:121638200-121645200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr3:121638400-121664800	Weak transcription	Spleen	Spleen
36	chr3:121638600-121661000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:121638800-121661000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:121640200-121648800	Strong transcription	GM12878-XiMat	blood
39	chr3:121640800-121651400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr3:121640800-121659400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr3:121641000-121644000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr3:121642200-121645200	Weak transcription	Fetal Muscle Leg	muscle
43	chr3:121642200-121646200	Weak transcription	Primary T cells from cord blood	blood
44	chr3:121642400-121661600	Weak transcription	Fetal Thymus	thymus
45	chr3:121642800-121644400	Enhancers	K562	blood
46	chr3:121643200-121644000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr3:121643200-121644000	Enhancers	Stomach Mucosa	stomach
48	chr3:121643400-121644000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:121643400-121644400	Enhancers	Fetal Intestine Small	intestine
50	chr3:121643400-121659200	Weak transcription	Fetal Lung	lung

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