Variant report

Variant	rs4150441
Chromosome Location	chr2:128040915-128040916
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128039289..128042277-chr2:128174042..128176143,2	MCF-7	breast:
2	chr2:128038888..128041101-chr2:128056617..128059241,2	MCF-7	breast:
3	chr2:128014970..128016658-chr2:128040574..128042707,2	MCF-7	breast:
4	chr2:128040423..128043737-chr2:128045264..128047560,3	MCF-7	breast:
5	chr2:128036353..128038060-chr2:128038149..128041333,3	MCF-7	breast:
6	chr2:128039935..128041904-chr2:128051632..128053435,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163161	Chromatin interaction
ENSG00000115718	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10209678	0.93[ASN][1000 genomes]
rs10803585	0.87[ASN][1000 genomes]
rs10928761	0.89[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11886231	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11890187	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11901355	0.80[ASN][1000 genomes]
rs12052483	0.86[ASN][1000 genomes]
rs12463451	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12465955	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12477214	0.84[ASN][1000 genomes]
rs12479003	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12622436	0.80[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12623948	0.94[ASN][1000 genomes]
rs12692064	0.93[ASN][1000 genomes]
rs12989081	0.85[ASN][1000 genomes]
rs12989154	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12991062	0.80[ASN][1000 genomes]
rs12991768	0.82[ASN][1000 genomes]
rs13029237	0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs1566823	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17015199	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1850689	0.85[ASN][1000 genomes]
rs2090574	0.87[ASN][1000 genomes]
rs2174270	0.96[ASN][1000 genomes]
rs2276583	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2896980	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34832797	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35293119	0.85[ASN][1000 genomes]
rs35328149	0.94[ASN][1000 genomes]
rs3768866	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4150407	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4150454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4150477	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4150495	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4150496	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4233583	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4233584	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4497825	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs4662575	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4662578	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4662580	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4662711	0.91[ASN][1000 genomes]
rs4662712	0.82[ASN][1000 genomes]
rs4662717	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4662722	0.92[CEU][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4662725	0.86[ASN][1000 genomes]
rs55905117	0.97[ASN][1000 genomes]
rs55998967	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58475809	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59566504	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62157549	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62157555	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6430935	0.95[ASN][1000 genomes]
rs6712213	0.94[ASN][1000 genomes]
rs6712446	0.94[ASN][1000 genomes]
rs6712551	0.94[ASN][1000 genomes]
rs6731176	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs6732279	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6761447	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71414745	0.88[ASN][1000 genomes]
rs7568261	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7580658	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7589451	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs867304	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9636237	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9789510	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128014000-128041000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:128014600-128041000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:128021200-128050000	Strong transcription	Fetal Stomach	stomach
4	chr2:128023200-128041000	Strong transcription	Fetal Muscle Trunk	muscle
5	chr2:128023400-128050400	Strong transcription	Liver	Liver
6	chr2:128024200-128050600	Strong transcription	Fetal Intestine Large	intestine
7	chr2:128024400-128041000	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:128024400-128041000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:128024400-128041000	Strong transcription	Fetal Muscle Leg	muscle
10	chr2:128024400-128049600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr2:128024400-128049800	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr2:128024400-128050000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:128024400-128050200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:128024400-128050200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:128024400-128050200	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:128024400-128050400	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:128024400-128050400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:128024400-128050400	Strong transcription	Thymus	Thymus
19	chr2:128024400-128050800	Strong transcription	Fetal Thymus	thymus
20	chr2:128024600-128041000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:128024600-128041000	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:128024600-128041000	Strong transcription	Fetal Brain Female	brain
23	chr2:128024600-128041000	Strong transcription	A549	lung
24	chr2:128024600-128041200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:128024600-128049200	Strong transcription	Dnd41	blood
26	chr2:128024600-128049600	Strong transcription	Primary T cells from cord blood	blood
27	chr2:128024600-128050000	Strong transcription	HepG2	liver
28	chr2:128024600-128050200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr2:128024600-128050200	Strong transcription	Adipose Nuclei	Adipose
30	chr2:128024800-128041000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:128024800-128041200	Strong transcription	HMEC	breast
32	chr2:128024800-128044200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:128024800-128050000	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr2:128024800-128050200	Strong transcription	Brain Anterior Caudate	brain
35	chr2:128024800-128050200	Strong transcription	Brain Hippocampus Middle	brain
36	chr2:128024800-128050200	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:128024800-128050200	Strong transcription	Stomach Smooth Muscle	stomach
38	chr2:128024800-128050400	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr2:128024800-128050400	Strong transcription	Osteobl	bone
40	chr2:128025000-128041400	Strong transcription	Brain Germinal Matrix	brain
41	chr2:128025000-128050600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:128025200-128041200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:128025200-128050000	Strong transcription	Left Ventricle	heart
44	chr2:128025200-128050200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:128025600-128041200	Strong transcription	Primary B cells from cord blood	blood
46	chr2:128025600-128041600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:128025800-128041800	Strong transcription	Lung	lung
48	chr2:128025800-128050000	Strong transcription	Spleen	Spleen
49	chr2:128026800-128041000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:128027200-128041200	Strong transcription	Fetal Intestine Small	intestine

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