Variant report

Variant	rs2295957
Chromosome Location	chr1:173869643-173869644
allele	A/G
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:1)
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	chr1:173859716..173863027-chr1:173865455..173870785,5	K562	blood:
2	chr1:173863088..173867176-chr1:173869417..173872260,5	MCF-7	breast:
3	chr1:173865468..173869830-chr1:173871500..173875883,4	MCF-7	breast:
4	chr1:173828069..173829648-chr1:173869495..173872010,2	K562	blood:
5	chr1:173868345..173870292-chr1:173879579..173881405,2	K562	blood:
6	chr1:173868704..173870321-chr1:173875152..173876806,2	K562	blood:
7	chr1:173813848..173815354-chr1:173868655..173871235,2	MCF-7	breast:
8	chr1:173805772..173808648-chr1:173867420..173869659,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZBTB37-3	chr1:173869581-173870443	NONHSAT007706

No data

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10489894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535527	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16846529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16846541	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17359906	0.96[ASN][1000 genomes]
rs1969757	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067079	1.00[YRI][hapmap]
rs2227607	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2227609	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35571466	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56064477	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56288561	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56382804	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59675210	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61609614	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61827869	0.93[ASN][1000 genomes]
rs6667813	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6682076	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700754	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709385	0.86[ASN][1000 genomes]
rs72709390	0.86[ASN][1000 genomes]
rs72711419	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711421	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711423	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711425	0.93[ASN][1000 genomes]
rs7525115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases
3	esv2757761	chr1:173810642-173955943	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
4	esv2758978	chr1:173810642-173955943	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173855600-173875400	Weak transcription	NH-A	brain
2	chr1:173855800-173873000	Weak transcription	Fetal Intestine Small	intestine
3	chr1:173855800-173880400	Weak transcription	Thymus	Thymus
4	chr1:173856000-173869800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:173856000-173872600	Weak transcription	Fetal Thymus	thymus
6	chr1:173856000-173883000	Weak transcription	Right Ventricle	heart
7	chr1:173856200-173869800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:173856200-173872800	Weak transcription	Ovary	ovary
9	chr1:173856200-173875400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:173856200-173878400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:173856200-173880400	Weak transcription	Psoas Muscle	Psoas
12	chr1:173856400-173873800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:173856400-173876000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:173856400-173880000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:173856600-173881200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:173856600-173907200	Weak transcription	Brain Germinal Matrix	brain
17	chr1:173857000-173883800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:173857400-173880400	Weak transcription	Fetal Brain Female	brain
19	chr1:173857400-173881800	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:173857400-173884400	Weak transcription	HepG2	liver
21	chr1:173857400-173885800	Weak transcription	Fetal Intestine Large	intestine
22	chr1:173857400-173902000	Weak transcription	HSMMtube	muscle
23	chr1:173857600-173870000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:173857600-173872600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:173858200-173902800	Weak transcription	Left Ventricle	heart
26	chr1:173858400-173878600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:173858600-173881400	Weak transcription	Primary B cells from cord blood	blood
28	chr1:173858600-173886800	Weak transcription	Placenta	Placenta
29	chr1:173858800-173871400	Weak transcription	HSMM	muscle
30	chr1:173858800-173872200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:173858800-173876000	Weak transcription	NHLF	lung
32	chr1:173862000-173873400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:173862000-173891600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:173862200-173872000	Weak transcription	Fetal Lung	lung
35	chr1:173863600-173875800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:173863800-173878800	Weak transcription	Aorta	Aorta
37	chr1:173864000-173875600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:173864200-173878600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:173864600-173871800	Weak transcription	Fetal Stomach	stomach
40	chr1:173864600-173878200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr1:173864600-173886600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:173865200-173874600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr1:173865400-173873200	Weak transcription	Primary T cells from cord blood	blood
44	chr1:173866600-173878600	Strong transcription	Liver	Liver
45	chr1:173868200-173870400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr1:173868400-173870400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr1:173868400-173873000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr1:173868600-173870000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:173868600-173870000	Enhancers	GM12878-XiMat	blood
50	chr1:173868600-173870200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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