Variant report

Variant	rs7314
Chromosome Location	chr1:173457599-173457600
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:173457504..173459269-chr1:173764576..173766999,2	K562	blood:
2	chr1:173456168..173461242-chr1:173467676..173473413,6	K562	blood:
3	chr1:173457080..173459531-chr1:173825329..173828115,2	K562	blood:
4	chr1:173445279..173447565-chr1:173456877..173458938,2	MCF-7	breast:
5	chr1:173455943..173458874-chr1:173472089..173474445,2	MCF-7	breast:
6	chr1:173454680..173459783-chr1:173793534..173797579,4	K562	blood:
7	chr1:173452597..173454697-chr1:173456877..173459634,2	MCF-7	breast:
8	chr1:173450429..173453929-chr1:173454032..173458436,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000120334	Chromatin interaction
ENSG00000117593	Chromatin interaction
ENSG00000117592	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10737301	0.84[CEU][hapmap]
rs10753078	0.84[CEU][hapmap]
rs10753081	0.87[ASN][1000 genomes]
rs10753082	0.84[AFR][1000 genomes]
rs10753083	0.88[YRI][hapmap]
rs10798282	0.83[ASW][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.80[LWK][hapmap];0.97[TSI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10912617	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs10912618	0.95[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.97[TSI][hapmap]
rs10912624	0.81[YRI][hapmap]
rs10912643	0.81[YRI][hapmap]
rs10912656	0.87[CHB][hapmap]
rs12065426	0.83[MEX][hapmap]
rs12075314	0.88[AFR][1000 genomes]
rs12077271	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12080722	0.84[AFR][1000 genomes]
rs12092383	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs12140760	0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs12565753	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12744504	0.84[CEU][hapmap]
rs12745058	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1359460	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs1461022	0.82[AFR][1000 genomes]
rs1461024	0.80[AFR][1000 genomes]
rs1547154	0.86[AFR][1000 genomes]
rs1886638	0.84[YRI][hapmap]
rs3934575	0.84[CEU][hapmap]
rs3934576	0.84[CEU][hapmap]
rs4244195	0.84[CEU][hapmap]
rs4255417	0.82[ASN][1000 genomes]
rs4276950	0.95[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap]
rs4294450	0.84[CEU][hapmap]
rs4310474	0.84[CEU][hapmap]
rs4382766	0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4539167	0.84[CEU][hapmap]
rs4573551	0.83[AFR][1000 genomes]
rs4611	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916220	0.82[ASN][1000 genomes]
rs4916358	0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.97[TSI][hapmap];0.84[ASN][1000 genomes]
rs4916359	0.85[ASN][1000 genomes]
rs4916361	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4916362	0.83[ASW][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.97[TSI][hapmap];0.87[ASN][1000 genomes]
rs4916363	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4916366	0.88[AFR][1000 genomes]
rs4916367	0.88[AFR][1000 genomes]
rs6425233	0.95[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.92[TSI][hapmap]
rs6696012	0.84[ASN][1000 genomes]
rs6699094	0.82[CEU][hapmap]
rs6702835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7516544	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7530469	0.84[CEU][hapmap]
rs7535963	0.88[AFR][1000 genomes]
rs7537938	0.95[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.97[TSI][hapmap]
rs7540065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7549074	0.84[CEU][hapmap]
rs7551305	0.85[AFR][1000 genomes]
rs912767	0.83[MEX][hapmap]
rs912768	0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs9425718	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs9425719	0.84[ASN][1000 genomes]
rs9425723	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9425724	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[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	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv947335	chr1:173455122-173458140	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 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	chr1:173448000-173477000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:173448600-173459800	Strong transcription	Fetal Muscle Trunk	muscle
3	chr1:173448800-173458200	Strong transcription	Primary B cells from cord blood	blood
4	chr1:173448800-173459400	Weak transcription	Stomach Mucosa	stomach
5	chr1:173448800-173460000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:173449000-173458600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:173449000-173458800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:173449000-173458800	Strong transcription	Fetal Intestine Large	intestine
9	chr1:173449000-173459400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:173449000-173459400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:173449200-173458800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:173449200-173459600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:173449400-173457800	Strong transcription	NHDF-Ad	bronchial
14	chr1:173449400-173458000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:173449400-173458600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:173449400-173458800	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr1:173449400-173459200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:173449600-173458000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:173449600-173458600	Strong transcription	Primary hematopoietic stem cells	blood
20	chr1:173449600-173458600	Strong transcription	HMEC	breast
21	chr1:173449600-173458600	Strong transcription	HUVEC	blood vessel
22	chr1:173449600-173458600	Strong transcription	NH-A	brain
23	chr1:173449600-173458600	Strong transcription	Osteobl	bone
24	chr1:173449600-173458800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:173449600-173458800	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:173449600-173458800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:173449600-173458800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:173449600-173458800	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr1:173449600-173459200	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr1:173449600-173459400	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr1:173449600-173459400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:173449600-173459400	Strong transcription	HSMM	muscle
33	chr1:173449600-173459600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:173449600-173460000	Strong transcription	A549	lung
35	chr1:173449800-173457800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr1:173449800-173458400	Strong transcription	Hela-S3	cervix
37	chr1:173449800-173458600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:173449800-173458800	Strong transcription	Fetal Thymus	thymus
39	chr1:173449800-173459000	Strong transcription	Fetal Muscle Leg	muscle
40	chr1:173449800-173459200	Strong transcription	Brain Hippocampus Middle	brain
41	chr1:173449800-173459400	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr1:173449800-173460000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:173450000-173458400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:173450000-173458400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:173450000-173458400	Strong transcription	NHLF	lung
46	chr1:173450000-173458600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:173450000-173458600	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:173450000-173458600	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:173450000-173459000	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr1:173450000-173459200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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