Variant report

Variant	rs1038748
Chromosome Location	chr1:151942160-151942161
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151939559..151942218-chr1:152018878..152020533,2	MCF-7	breast:
2	chr1:151941976..151947771-chr1:152006202..152009564,7	MCF-7	breast:
3	chr1:151939365..151942240-chr1:151972408..151973945,2	K562	blood:
4	chr1:151939119..151942240-chr1:151972408..151975216,4	K562	blood:
5	chr1:151940762..151943209-chr1:151945501..151947443,3	MCF-7	breast:
6	chr1:151926747..151929473-chr1:151939823..151942198,2	MCF-7	breast:
7	chr1:151905958..151908802-chr1:151940211..151943154,2	K562	blood:
8	chr1:151941333..151942883-chr17:57860165..57862402,2	MCF-7	breast:
9	chr1:151933684..151936159-chr1:151941486..151943210,2	MCF-7	breast:
10	chr1:151941408..151942401-chr1:151973915..151974457,2	K562	blood:
11	chr1:151867153..151869066-chr1:151941093..151942676,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163191	Chromatin interaction
ENSG00000267637	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs1003107	1.00[CHB][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs10158030	1.00[CHB][hapmap];0.89[YRI][hapmap]
rs1038746	1.00[CHB][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1048910	0.82[AFR][1000 genomes]
rs10788813	1.00[CHB][hapmap]
rs10788814	0.82[AFR][1000 genomes]
rs10788816	1.00[CHB][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs10888449	0.87[AFR][1000 genomes]
rs10888453	1.00[CHB][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11204911	1.00[CHB][hapmap]
rs11204912	1.00[CHB][hapmap]
rs11204923	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11578030	1.00[CHB][hapmap]
rs12723616	1.00[CHB][hapmap]
rs1387834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1387835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1473493	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1473494	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1473495	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1490187	1.00[CHB][hapmap]
rs1490190	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1490191	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1496037	1.00[CHB][hapmap]
rs1532132	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1552605	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1552606	1.00[CHB][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1552607	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1602245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1602246	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1602248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17583707	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1826170	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1826171	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1826172	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1844542	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1873310	1.00[CHB][hapmap]
rs1873311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1873312	1.00[CHB][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs1967085	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2087550	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2130526	0.87[AFR][1000 genomes]
rs2338018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2338203	0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs2338204	0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2338210	0.88[AMR][1000 genomes]
rs2932563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932564	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932567	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2932578	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2932584	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2932585	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2932588	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2932591	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2932592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2932595	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2932596	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2932597	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2999509	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2999511	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2999514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2999515	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2999518	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2999519	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2999520	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2999522	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2999523	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2999524	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2999525	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2999527	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2999529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2999530	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2999535	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2999536	1.00[CHB][hapmap]
rs2999537	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2999538	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2999551	1.00[CHB][hapmap]
rs2999552	1.00[CHB][hapmap]
rs2999555	1.00[CHB][hapmap]
rs2999558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3001979	1.00[CHB][hapmap]
rs3007672	1.00[CHB][hapmap]
rs3007676	1.00[CHB][hapmap]
rs3007679	1.00[CHB][hapmap]
rs3007682	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs3007690	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs3007692	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3007693	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3007699	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3007700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3007701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3007704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3122300	1.00[CHB][hapmap]
rs3122301	1.00[CHB][hapmap]
rs3134814	1.00[CHB][hapmap]
rs34370890	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3748805	0.87[AFR][1000 genomes]
rs3762427	0.82[AFR][1000 genomes]
rs4845385	1.00[CHB][hapmap];0.89[YRI][hapmap]
rs4845388	1.00[CHB][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs4845393	1.00[CHB][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs4845660	1.00[CHB][hapmap]
rs4845664	1.00[CHB][hapmap]
rs4845699	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs61113720	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6587626	1.00[CHB][hapmap]
rs6587628	1.00[CHB][hapmap]
rs6587629	1.00[CHB][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs6587630	1.00[CHB][hapmap]
rs6587641	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6659029	1.00[CHB][hapmap]
rs6662463	0.82[AFR][1000 genomes]
rs6685291	1.00[CHB][hapmap]
rs6690443	0.82[AFR][1000 genomes]
rs6691350	1.00[CHB][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs6704157	0.89[AFR][1000 genomes]
rs7529451	1.00[CHB][hapmap]
rs7532721	1.00[CHB][hapmap]
rs902314	1.00[CHB][hapmap]
rs902315	1.00[CHB][hapmap]
rs959945	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs971888	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9943225	1.00[CHB][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription 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	196 gene(s)	inside rSNPs	diseases
4	nsv547852	chr1:151843044-151955230	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases
6	nsv2855	chr1:151936470-151966381	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151933600-151945000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:151934200-151942600	Weak transcription	HSMM	muscle
3	chr1:151934600-151953400	Weak transcription	Psoas Muscle	Psoas
4	chr1:151936000-151945000	Weak transcription	HSMMtube	muscle
5	chr1:151937200-151945000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:151938400-151942600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:151938400-151945000	Enhancers	HMEC	breast
8	chr1:151938400-151946200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:151938800-151942200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:151938800-151942400	Enhancers	HUVEC	blood vessel
11	chr1:151939600-151950800	Enhancers	Fetal Intestine Small	intestine
12	chr1:151939800-151943000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:151940200-151942600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:151940200-151942800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:151940200-151943200	Enhancers	Adipose Nuclei	Adipose
16	chr1:151940400-151942600	Enhancers	NHEK	skin
17	chr1:151940400-151944400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr1:151940400-151945000	Enhancers	Hela-S3	cervix
19	chr1:151940600-151942200	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr1:151940600-151943000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:151940600-151944000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:151940800-151944200	Enhancers	NHDF-Ad	bronchial
23	chr1:151940800-151945200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:151941000-151942200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:151941000-151942600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:151941000-151943400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:151941000-151944800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:151941000-151945000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:151941000-151945000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:151941000-151946200	Weak transcription	Colonic Mucosa	Colon
31	chr1:151941000-151953200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:151941000-151953200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr1:151941000-151953400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:151941000-151953400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr1:151941000-151954800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:151941200-151945200	Weak transcription	Placenta	Placenta
37	chr1:151941200-151952800	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:151941200-151952800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:151941200-151953000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr1:151941200-151955200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:151941400-151942600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:151941400-151942600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:151941400-151942600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:151941400-151942600	Weak transcription	Stomach Mucosa	stomach
45	chr1:151941400-151942600	Weak transcription	Spleen	Spleen
46	chr1:151941400-151943200	Flanking Active TSS	A549	lung
47	chr1:151941400-151944200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:151941400-151945000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:151941400-151945000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:151941400-151945200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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