Variant report

Variant	rs13014136
Chromosome Location	chr2:39010304-39010305
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38974982..38979904-chr2:39002191..39014206,31	MCF-7	breast:
2	chr2:39009539..39012325-chr2:39014609..39017212,2	K562	blood:
3	chr2:39010149..39012211-chr2:39018515..39021325,3	MCF-7	breast:
4	chr2:38977058..38979764-chr2:39007414..39010440,5	MCF-7	breast:
5	chr2:38978104..38979816-chr2:39008892..39011807,3	K562	blood:

Variant related genes	Relation type
ENSG00000152147	Chromatin interaction
ENSG00000115875	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10168789	0.82[ASN][1000 genomes]
rs10173118	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10173240	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10197412	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10865143	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10865144	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11694383	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11889280	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12465043	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12468732	0.95[ASN][1000 genomes]
rs12469681	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12472454	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12473036	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12477252	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12618118	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12712621	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12712622	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12991609	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12996194	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13011522	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13029406	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13383541	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13411868	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13417196	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530852	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1530853	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1979142	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2037875	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3099952	0.88[ASN][1000 genomes]
rs3099960	0.85[ASN][1000 genomes]
rs3099965	0.98[EUR][1000 genomes]
rs3099984	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3099985	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3099987	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3099988	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3099989	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3099991	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3112140	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3112149	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3112198	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3112200	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3112205	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3112209	0.81[ASN][1000 genomes]
rs3112210	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3112216	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3770681	0.84[ASN][1000 genomes]
rs4602206	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4630748	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4670894	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4670897	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56393601	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60012208	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62144837	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6544175	0.84[ASN][1000 genomes]
rs6715866	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6723868	0.88[ASN][1000 genomes]
rs6753251	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7419616	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7419838	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7588621	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7589162	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7602287	0.81[EUR][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	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	esv1798055	chr2:38955865-39039504	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
4	nsv1014616	chr2:38985472-39022893	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13014136	SFRS7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39005800-39037400	Weak transcription	Esophagus	oesophagus
2	chr2:39006000-39011800	Weak transcription	Pancreas	Pancrea
3	chr2:39006000-39012400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:39006000-39016000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:39006000-39037600	Weak transcription	Aorta	Aorta
6	chr2:39006000-39037600	Weak transcription	Gastric	stomach
7	chr2:39006200-39010600	Weak transcription	Stomach Mucosa	stomach
8	chr2:39006200-39025200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:39006200-39029200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:39006200-39029800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:39006200-39031800	Weak transcription	Right Ventricle	heart
12	chr2:39006400-39010400	Strong transcription	Fetal Intestine Small	intestine
13	chr2:39006400-39010400	Weak transcription	NH-A	brain
14	chr2:39006400-39011200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:39006400-39018800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:39006400-39024000	Weak transcription	Osteobl	bone
17	chr2:39006400-39025200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:39006400-39025200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:39006400-39029600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:39006400-39037800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:39006400-39045600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:39006400-39085600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:39006600-39011000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:39006600-39011400	Weak transcription	Hela-S3	cervix
25	chr2:39006600-39025200	Weak transcription	Fetal Brain Female	brain
26	chr2:39006600-39031600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:39006600-39032200	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:39006600-39033600	Weak transcription	GM12878-XiMat	blood
29	chr2:39006600-39038200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:39006800-39031800	Weak transcription	Fetal Brain Male	brain
31	chr2:39007400-39012000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:39008800-39011600	Weak transcription	Placenta	Placenta
33	chr2:39008800-39024200	Weak transcription	Left Ventricle	heart
34	chr2:39009000-39010800	Weak transcription	HepG2	liver
35	chr2:39009000-39011000	Weak transcription	Primary T cells from cord blood	blood
36	chr2:39009000-39011200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:39009000-39011200	Weak transcription	Fetal Intestine Large	intestine
38	chr2:39009000-39011800	Weak transcription	Brain Germinal Matrix	brain
39	chr2:39009000-39024600	Weak transcription	Spleen	Spleen
40	chr2:39009000-39024600	Weak transcription	Dnd41	blood
41	chr2:39009000-39027400	Weak transcription	Thymus	Thymus
42	chr2:39009000-39027800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:39009000-39029200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:39009000-39037400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:39009200-39010800	Weak transcription	A549	lung
46	chr2:39009200-39011000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:39009200-39011000	Weak transcription	Fetal Lung	lung
48	chr2:39009200-39011600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:39009200-39011800	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:39009200-39011800	Weak transcription	HSMMtube	muscle

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