Variant report

Variant	rs6429603
Chromosome Location	chr1:47024926-47024927
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47023201..47026031-chr1:47173277..47176114,2	K562	blood:
2	chr1:47022335..47026629-chr1:47028438..47032620,4	K562	blood:
3	chr1:47015863..47022104-chr1:47022936..47029939,8	K562	blood:

Variant related genes	Relation type
ENSG00000079277	Chromatin interaction
ENSG00000162456	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1267305	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12759113	1.00[CHB][hapmap]
rs2476166	1.00[EUR][1000 genomes]
rs34267509	1.00[ASN][1000 genomes]
rs35593017	1.00[ASN][1000 genomes]
rs3766240	0.93[YRI][hapmap]
rs6673787	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71638008	1.00[ASN][1000 genomes]
rs746878	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1000562	chr1:46832451-47027044	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers 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	17 gene(s)	inside rSNPs	diseases
8	nsv1009899	chr1:47007765-47062737	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv534954	chr1:47007765-47062737	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv1008246	chr1:47007844-47069845	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv1011892	chr1:47010519-47067492	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46999600-47035000	Weak transcription	Right Atrium	heart
2	chr1:47014000-47026600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr1:47015600-47025800	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:47015800-47026200	Weak transcription	Primary B cells from cord blood	blood
5	chr1:47015800-47041200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:47015800-47043400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:47016000-47025200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:47016000-47025600	Weak transcription	Fetal Brain Female	brain
9	chr1:47016000-47027000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:47016000-47037400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:47016200-47026000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:47016200-47030400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:47016400-47025600	Weak transcription	Brain Anterior Caudate	brain
14	chr1:47016800-47034800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:47017600-47039800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:47019000-47026200	Weak transcription	HepG2	liver
17	chr1:47019600-47032800	Weak transcription	Small Intestine	intestine
18	chr1:47019800-47043600	Weak transcription	Dnd41	blood
19	chr1:47020600-47025600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:47020600-47026200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:47020600-47031200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:47020800-47047400	Weak transcription	Brain Germinal Matrix	brain
23	chr1:47021000-47025000	Weak transcription	NHLF	lung
24	chr1:47021000-47057000	Weak transcription	Fetal Brain Male	brain
25	chr1:47021200-47026400	Weak transcription	Brain Substantia Nigra	brain
26	chr1:47021200-47045000	Weak transcription	K562	blood
27	chr1:47021600-47026400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:47021600-47032800	Weak transcription	GM12878-XiMat	blood
29	chr1:47021800-47054600	Weak transcription	A549	lung
30	chr1:47022000-47031400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:47022200-47043400	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr1:47022400-47053600	Strong transcription	Thymus	Thymus
33	chr1:47022600-47026400	Weak transcription	Osteobl	bone
34	chr1:47022600-47029800	Weak transcription	NHDF-Ad	bronchial
35	chr1:47022600-47051400	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:47022600-47051600	Strong transcription	Liver	Liver
37	chr1:47022800-47025800	Weak transcription	Fetal Lung	lung
38	chr1:47023000-47025400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:47023000-47034600	Strong transcription	Adipose Nuclei	Adipose
40	chr1:47023000-47039200	Strong transcription	Fetal Intestine Small	intestine
41	chr1:47023000-47044200	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr1:47023000-47047400	Strong transcription	Primary T cells from cord blood	blood
43	chr1:47023200-47025000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:47023200-47026200	Strong transcription	Esophagus	oesophagus
45	chr1:47023200-47026400	Weak transcription	Brain Angular Gyrus	brain
46	chr1:47023200-47030400	Weak transcription	Psoas Muscle	Psoas
47	chr1:47023200-47031600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:47023200-47031600	Strong transcription	Gastric	stomach
49	chr1:47023200-47031800	Strong transcription	Aorta	Aorta
50	chr1:47023200-47031800	Strong transcription	Left Ventricle	heart

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