Variant report

Variant	rs4951573
Chromosome Location	chr1:212336107-212336108
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212335340..212337440-chr1:212339249..212341604,3	K562	blood:
2	chr1:212335240..212337640-chr1:212359354..212362015,2	K562	blood:
3	chr1:212330760..212333077-chr1:212334606..212336652,3	K562	blood:
4	chr1:212333714..212336600-chr1:212458111..212460732,2	K562	blood:
5	chr1:212324486..212328323-chr1:212335764..212338503,4	K562	blood:
6	chr1:212335142..212337440-chr1:212338165..212340749,2	K562	blood:

Variant related genes	Relation type
ENSG00000229983	Chromatin interaction
ENSG00000066027	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10779569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10779570	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10863945	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863946	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10863947	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11119863	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11119864	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11119865	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11119866	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12122247	1.00[YRI][hapmap]
rs12125796	1.00[YRI][hapmap]
rs12132233	1.00[YRI][hapmap]
rs12133658	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145020	1.00[YRI][hapmap]
rs12566005	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907020	1.00[ASN][1000 genomes]
rs1907021	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907022	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907023	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2358450	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3795836	1.00[YRI][hapmap]
rs7535429	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212309000-212347200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:212324600-212340400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:212330800-212336800	Enhancers	Fetal Thymus	thymus
4	chr1:212331800-212336600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr1:212332800-212337600	Enhancers	Thymus	Thymus
6	chr1:212333000-212342000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:212334200-212336200	Enhancers	Osteobl	bone
8	chr1:212334200-212336400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:212334200-212336400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:212334200-212336400	Enhancers	HSMM	muscle
11	chr1:212334200-212336400	Enhancers	HSMMtube	muscle
12	chr1:212334200-212336600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:212334200-212336800	Enhancers	Psoas Muscle	Psoas
14	chr1:212334200-212336800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr1:212334200-212336800	Enhancers	Dnd41	blood
16	chr1:212334400-212336200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:212334400-212336400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:212334400-212336400	Enhancers	HMEC	breast
19	chr1:212334400-212336400	Enhancers	NH-A	brain
20	chr1:212334400-212336400	Enhancers	NHEK	skin
21	chr1:212334400-212336600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:212334400-212336600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:212334400-212336600	Enhancers	NHLF	lung
24	chr1:212334400-212337000	Enhancers	Primary hematopoietic stem cells	blood
25	chr1:212334400-212337000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:212334400-212337000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:212334400-212337200	Enhancers	K562	blood
28	chr1:212334600-212336200	Enhancers	Right Atrium	heart
29	chr1:212334600-212336400	Enhancers	Aorta	Aorta
30	chr1:212334600-212336400	Enhancers	Stomach Mucosa	stomach
31	chr1:212334600-212336400	Enhancers	NHDF-Ad	bronchial
32	chr1:212334600-212336600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:212334600-212336600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:212334600-212336600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr1:212334600-212336800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:212334600-212336800	Enhancers	Colon Smooth Muscle	Colon
37	chr1:212334600-212336800	Enhancers	Fetal Heart	heart
38	chr1:212334800-212336400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:212334800-212336400	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr1:212334800-212336600	Enhancers	HUVEC	blood vessel
41	chr1:212334800-212336800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:212334800-212336800	Enhancers	Lung	lung
43	chr1:212334800-212337000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:212335000-212336200	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr1:212335000-212336800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr1:212335200-212336400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr1:212335200-212336800	Enhancers	Primary T cells fromperipheralblood	blood
48	chr1:212335400-212336800	Enhancers	Fetal Muscle Leg	muscle
49	chr1:212335400-212336800	Enhancers	Left Ventricle	heart
50	chr1:212335400-212337000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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