Variant report

Variant	rs6698314
Chromosome Location	chr1:173858915-173858916
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:173639722..173641847-chr1:173856843..173859341,2	K562	blood:
2	chr1:173830453..173832716-chr1:173857010..173859587,2	K562	blood:
3	chr1:173854070..173860394-chr1:173860539..173867294,11	MCF-7	breast:
4	chr1:173835275..173839251-chr1:173856381..173859353,4	K562	blood:
5	chr1:173857110..173859005-chr1:173990596..173992280,2	K562	blood:
6	chr1:173855077..173857182-chr1:173858771..173861573,3	K562	blood:
7	chr1:173853137..173856860-chr1:173858771..173862944,6	K562	blood:
8	chr1:173831191..173840458-chr1:173852193..173864862,18	MCF-7	breast:
9	chr1:173836258..173838975-chr1:173857879..173860017,2	K562	blood:
10	chr1:173853006..173854798-chr1:173856901..173859018,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000208317	Chromatin interaction
ENSG00000135870	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000270084	Chromatin interaction
ENSG00000224977	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10489894	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.93[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535527	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16846439	1.00[YRI][hapmap]
rs16846529	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16846541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17359906	0.96[ASN][1000 genomes]
rs1969757	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2227607	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2227609	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2281486	0.90[LWK][hapmap];1.00[YRI][hapmap]
rs2295957	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35571466	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3791020	0.90[LWK][hapmap];1.00[YRI][hapmap]
rs55829688	0.81[AFR][1000 genomes]
rs56064477	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56288561	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56382804	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59675210	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61609614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61827869	0.93[ASN][1000 genomes]
rs6667813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6682076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691053	0.81[MEX][hapmap]
rs6700754	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709385	0.86[ASN][1000 genomes]
rs72709390	0.86[ASN][1000 genomes]
rs72711419	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711423	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711425	0.93[ASN][1000 genomes]
rs7525115	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9660881	0.81[AFR][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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173838200-173866000	Weak transcription	Small Intestine	intestine
2	chr1:173838400-173860200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:173839000-173862800	Weak transcription	HMEC	breast
4	chr1:173841000-173864400	Weak transcription	Fetal Heart	heart
5	chr1:173841000-173868600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:173842800-173859200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:173853400-173865200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:173854000-173859400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:173855400-173863000	Weak transcription	NHEK	skin
10	chr1:173855400-173868000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:173855600-173866800	Weak transcription	Pancreas	Pancrea
12	chr1:173855600-173875400	Weak transcription	NH-A	brain
13	chr1:173855800-173859400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:173855800-173860200	Weak transcription	Spleen	Spleen
15	chr1:173855800-173863400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:173855800-173873000	Weak transcription	Fetal Intestine Small	intestine
17	chr1:173855800-173880400	Weak transcription	Thymus	Thymus
18	chr1:173856000-173859200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:173856000-173861600	Weak transcription	Gastric	stomach
20	chr1:173856000-173862400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:173856000-173864200	Weak transcription	Fetal Stomach	stomach
22	chr1:173856000-173864400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:173856000-173865400	Weak transcription	Esophagus	oesophagus
24	chr1:173856000-173868400	Weak transcription	Hela-S3	cervix
25	chr1:173856000-173868600	Weak transcription	Brain Angular Gyrus	brain
26	chr1:173856000-173869400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:173856000-173869800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:173856000-173872600	Weak transcription	Fetal Thymus	thymus
29	chr1:173856000-173883000	Weak transcription	Right Ventricle	heart
30	chr1:173856200-173860000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:173856200-173860400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:173856200-173861000	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:173856200-173862000	Weak transcription	Aorta	Aorta
34	chr1:173856200-173862200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:173856200-173862600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:173856200-173862800	Weak transcription	K562	blood
37	chr1:173856200-173863400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:173856200-173863600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:173856200-173863600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr1:173856200-173864200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:173856200-173864800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:173856200-173865600	Weak transcription	Dnd41	blood
43	chr1:173856200-173866200	Weak transcription	GM12878-XiMat	blood
44	chr1:173856200-173867800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:173856200-173868800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr1:173856200-173868800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:173856200-173869800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:173856200-173872800	Weak transcription	Ovary	ovary
49	chr1:173856200-173875400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:173856200-173878400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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