Variant report

Variant	rs958021
Chromosome Location	chr1:171503936-171503937
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:171501615..171504205-chr1:171542764..171544270,2	K562	blood:
2	chr1:171500165..171501732-chr1:171501782..171504204,2	K562	blood:
3	chr1:171500053..171502232-chr1:171502938..171504641,2	MCF-7	breast:
4	chr1:171503911..171505997-chr1:171507014..171509957,2	K562	blood:
5	chr1:171497816..171500280-chr1:171502329..171504189,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10753120	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10753129	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10913198	0.82[AFR][1000 genomes]
rs1687064	0.82[AFR][1000 genomes]
rs170969	0.85[AFR][1000 genomes]
rs1980512	1.00[YRI][hapmap]
rs2015996	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2038042	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2272809	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs2294289	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs235466	0.82[AFR][1000 genomes]
rs235468	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs235474	0.82[ASN][1000 genomes]
rs235481	0.81[AFR][1000 genomes]
rs235484	0.82[AFR][1000 genomes]
rs235486	0.81[ASN][1000 genomes]
rs235492	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap]
rs235493	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs235496	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs235497	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs235501	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs235508	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs235509	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs235510	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs235883	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs235905	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs235906	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs235907	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2421841	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs34230913	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4384265	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4916232	0.83[AMR][1000 genomes]
rs4916389	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[YRI][hapmap]
rs4916394	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs61814673	0.82[AFR][1000 genomes]
rs7514441	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs7523355	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap]
rs7531984	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7536460	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7538827	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs760644	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs764206	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv465639	chr1:171459507-171545051	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv548190	chr1:171459507-171545051	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171475800-171524400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:171481000-171528000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:171481200-171518800	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:171481200-171519200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:171481200-171519600	Strong transcription	Dnd41	blood
6	chr1:171481200-171520000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr1:171481200-171522400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:171481400-171519200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:171481400-171519800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:171481400-171520000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:171481400-171522800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:171481600-171519200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:171481600-171520600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr1:171481800-171520000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:171481800-171520600	Strong transcription	Placenta	Placenta
16	chr1:171482000-171519800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:171482000-171520000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:171482000-171520400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:171482000-171520400	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr1:171482000-171522000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:171482000-171523000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:171482000-171524400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:171482200-171506400	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:171482200-171508200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:171482200-171512000	Strong transcription	Primary T cells from cord blood	blood
26	chr1:171482200-171518400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:171482200-171519200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:171482200-171520000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:171482200-171520000	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr1:171482200-171520400	Strong transcription	Duodenum Mucosa	Duodenum
31	chr1:171482200-171520600	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr1:171482200-171520600	Strong transcription	Fetal Thymus	thymus
33	chr1:171482200-171541800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr1:171482400-171520000	Strong transcription	Liver	Liver
35	chr1:171482400-171520400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:171482600-171520600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:171483200-171505800	Strong transcription	Fetal Muscle Leg	muscle
38	chr1:171483200-171513800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr1:171483200-171520400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr1:171483200-171520600	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr1:171483600-171513200	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:171483600-171520400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:171485200-171513800	Strong transcription	Fetal Intestine Large	intestine
44	chr1:171486800-171509200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr1:171491400-171513800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:171494800-171519800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:171495200-171524800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:171496000-171515400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr1:171496000-171520000	Strong transcription	Adipose Nuclei	Adipose
50	chr1:171496400-171507600	Strong transcription	Primary hematopoietic stem cells	blood

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