Variant report

Variant	rs10938715
Chromosome Location	chr4:8477385-8477386
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8442292..8444495-chr4:8476315..8478872,2	MCF-7	breast:
2	chr4:8475299..8477901-chr4:8499421..8502393,2	MCF-7	breast:
3	chr4:8469176..8470794-chr4:8477101..8479273,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155275	Chromatin interaction
ENSG00000087008	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10008186	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10009833	0.85[CEU][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.89[JPT][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10012186	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10015429	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10029016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10031818	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11736150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11737745	1.00[ASN][1000 genomes]
rs11934642	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13105919	1.00[CEU][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16842416	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28536709	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28544429	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28739492	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2972	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3115397	0.80[YRI][hapmap]
rs3796741	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs71603931	0.87[ASN][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	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8447000-8480200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:8447200-8480200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:8447400-8482200	Strong transcription	Primary T cells from cord blood	blood
4	chr4:8459800-8478800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr4:8463800-8478800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr4:8465200-8482200	Strong transcription	Brain Germinal Matrix	brain
7	chr4:8465400-8480200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:8467600-8482200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr4:8467800-8480400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:8468000-8478600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:8468400-8479600	Weak transcription	Psoas Muscle	Psoas
12	chr4:8470600-8479000	Weak transcription	Fetal Brain Male	brain
13	chr4:8471200-8477400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr4:8471200-8480600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr4:8471400-8477400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:8471400-8477400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr4:8471400-8479600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:8471400-8480200	Weak transcription	HMEC	breast
19	chr4:8471600-8477800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr4:8471800-8477600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr4:8471800-8477600	Weak transcription	A549	lung
22	chr4:8471800-8479600	Weak transcription	NHEK	skin
23	chr4:8471800-8480000	Weak transcription	GM12878-XiMat	blood
24	chr4:8471800-8480800	Weak transcription	HepG2	liver
25	chr4:8471800-8483200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:8472000-8480200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr4:8472200-8477400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:8472200-8480800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:8472400-8477400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr4:8472400-8479800	Weak transcription	Primary B cells from cord blood	blood
31	chr4:8472600-8480000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr4:8473400-8477600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:8473600-8477400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:8473600-8477600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr4:8473600-8477600	Weak transcription	Brain Angular Gyrus	brain
36	chr4:8473600-8501400	Weak transcription	Brain Substantia Nigra	brain
37	chr4:8473800-8477400	Weak transcription	Fetal Intestine Large	intestine
38	chr4:8474600-8477400	Weak transcription	Left Ventricle	heart
39	chr4:8474600-8480600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:8474800-8479800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:8475000-8480200	Weak transcription	K562	blood
42	chr4:8475200-8478000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:8475200-8479400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:8475200-8480000	Weak transcription	HSMM	muscle
45	chr4:8475400-8477400	Weak transcription	Colonic Mucosa	Colon
46	chr4:8475400-8477600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:8475400-8480400	Strong transcription	Spleen	Spleen
48	chr4:8475600-8477400	Weak transcription	Fetal Muscle Leg	muscle
49	chr4:8475600-8477400	Weak transcription	Fetal Thymus	thymus
50	chr4:8475600-8477400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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