Variant report

Variant	rs1424376
Chromosome Location	chr7:137687989-137687990
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	JUN	chr7:137685594-137688107	K562	blood:	n/a	chr7:137687003-137687012 chr7:137686330-137686339 chr7:137685721-137685735 chr7:137687002-137687015
2	POLR2A	chr7:137680358-137688132	IMR90	lung:	n/a	n/a
3	RAD21	chr7:137683968-137688136	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr7:137687840-137687990	HRE	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:11981732..11982258-chr7:137687279..137688011,2	Hela-S3	cervix:
2	chr7:137643171..137645975-chr7:137687593..137689334,2	K562	blood:
3	chr7:137636438..137645214-chr7:137681826..137688964,19	MCF-7	breast:
4	chr7:135346934..135350553-chr7:137685034..137688102,3	K562	blood:

Variant related genes	Relation type
CREB3L2	TF binding region
ENSG00000237243	Chromatin interaction
ENSG00000243317	Chromatin interaction
ENSG00000212303	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10954596	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10954597	0.95[EUR][1000 genomes]
rs11769891	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11972734	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13232124	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2113439	0.81[CEU][hapmap]
rs2352137	0.80[CEU][hapmap]
rs34394140	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34469503	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34970488	0.85[EUR][1000 genomes]
rs35508415	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35556241	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56083840	0.81[EUR][1000 genomes]
rs713470	0.81[CEU][hapmap]
rs713471	0.95[EUR][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	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137686800-137693400	Weak transcription	Aorta	Aorta
2	chr7:137686800-137693400	Weak transcription	Fetal Heart	heart
3	chr7:137687000-137688000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:137687000-137689000	Weak transcription	NHDF-Ad	bronchial
5	chr7:137687000-137689200	Weak transcription	Spleen	Spleen
6	chr7:137687000-137690800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:137687000-137693400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:137687000-137693400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:137687000-137693400	Weak transcription	Right Atrium	heart
10	chr7:137687000-137700000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:137687200-137688000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:137687200-137688000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:137687400-137688000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr7:137687400-137688000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:137687600-137688000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:137687600-137688000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:137687600-137688000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:137687600-137688000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:137687600-137688000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:137687600-137688000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:137687600-137688000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr7:137687600-137688000	Enhancers	Fetal Intestine Small	intestine
23	chr7:137687600-137688000	Enhancers	Placenta	Placenta
24	chr7:137687600-137688000	Enhancers	Dnd41	blood
25	chr7:137687600-137688000	Enhancers	GM12878-XiMat	blood
26	chr7:137687600-137688200	Enhancers	Fetal Intestine Large	intestine
27	chr7:137687600-137689400	Enhancers	HUVEC	blood vessel
28	chr7:137687600-137690800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:137687600-137690800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:137687600-137692800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:137687600-137693400	Weak transcription	Brain Substantia Nigra	brain
32	chr7:137687600-137693400	Weak transcription	Fetal Muscle Leg	muscle
33	chr7:137687600-137693800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:137687800-137688000	Enhancers	K562	blood
35	chr7:137687800-137688200	Enhancers	HepG2	liver
36	chr7:137687800-137688800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr7:137687800-137689200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:137687800-137689600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:137687800-137690600	Weak transcription	Osteobl	bone
40	chr7:137687800-137690800	Weak transcription	NHLF	lung
41	chr7:137687800-137693400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr7:137687800-137693400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:137687800-137693400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:137687800-137693400	Weak transcription	Adipose Nuclei	Adipose
45	chr7:137687800-137693400	Weak transcription	Liver	Liver
46	chr7:137687800-137693400	Weak transcription	Brain Anterior Caudate	brain
47	chr7:137687800-137693400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr7:137687800-137693400	Weak transcription	A549	lung
49	chr7:137687800-137693400	Weak transcription	Hela-S3	cervix
50	chr7:137687800-137693600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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