Variant report

Variant	rs6425256
Chromosome Location	chr1:173722545-173722546
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173720884..173724693-chr1:173791444..173794240,3	K562	blood:

Variant related genes	Relation type
ENSG00000117593	Chromatin interaction
ENSG00000120334	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10157215	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10157218	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10157371	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10157384	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10157684	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10158197	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10158568	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10158663	0.82[YRI][hapmap]
rs10399912	0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10489892	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10489893	1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912668	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912674	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912678	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs10912680	1.00[ASW][hapmap];0.88[YRI][hapmap]
rs10912681	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912683	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10912687	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912688	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912693	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912699	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912700	1.00[EUR][1000 genomes]
rs10912701	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10912707	1.00[EUR][1000 genomes]
rs10912708	1.00[EUR][1000 genomes]
rs10912711	1.00[EUR][1000 genomes]
rs10912712	1.00[EUR][1000 genomes]
rs1135333	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11487390	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12057440	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12060967	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12061013	1.00[EUR][1000 genomes]
rs12062801	1.00[EUR][1000 genomes]
rs12063273	1.00[EUR][1000 genomes]
rs12063296	1.00[EUR][1000 genomes]
rs12064818	1.00[EUR][1000 genomes]
rs12067191	1.00[EUR][1000 genomes]
rs12069446	1.00[EUR][1000 genomes]
rs12073448	1.00[EUR][1000 genomes]
rs12078471	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12078645	1.00[EUR][1000 genomes]
rs12079240	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079315	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079650	1.00[EUR][1000 genomes]
rs12080389	0.86[YRI][hapmap]
rs12081137	0.89[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12083064	0.89[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12084213	1.00[EUR][1000 genomes]
rs12086687	1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090440	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090507	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093624	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12094130	1.00[ASW][hapmap];0.85[YRI][hapmap]
rs12094912	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12096832	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs1322771	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs1322772	0.82[YRI][hapmap]
rs1322773	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1322781	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1474907	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs1570385	1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846383	1.00[ASW][hapmap]
rs16846395	1.00[ASW][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]
rs16846398	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846420	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs1903410	1.00[EUR][1000 genomes]
rs1903411	1.00[EUR][1000 genomes]
rs2227611	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2227622	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28578576	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs28853918	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4652225	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56195767	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57586767	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57820984	0.91[AMR][1000 genomes]
rs59090917	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59332560	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60047664	1.00[EUR][1000 genomes]
rs6425257	0.82[YRI][hapmap]
rs6663880	0.82[YRI][hapmap]
rs6675762	1.00[ASW][hapmap];0.85[YRI][hapmap]
rs6684147	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6690869	1.00[EUR][1000 genomes]
rs6691327	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs6692452	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs73033131	1.00[EUR][1000 genomes]
rs74126415	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7518130	1.00[ASW][hapmap]
rs7536773	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs7544583	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs7550036	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs7550107	1.00[EUR][1000 genomes]
rs7552840	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs7556211	1.00[EUR][1000 genomes]
rs874342	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9282959	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs9286886	0.85[YRI][hapmap]
rs9286887	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs9286890	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs9425413	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425414	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425415	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs9425422	0.82[YRI][hapmap]
rs9425423	0.82[YRI][hapmap]
rs9425427	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425735	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425736	0.82[YRI][hapmap]
rs9425741	0.82[YRI][hapmap]
rs9425752	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs9425759	1.00[ASW][hapmap]
rs9425761	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs9425768	1.00[ASW][hapmap];0.86[LWK][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9442660	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs9970633	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs997165	1.00[EUR][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	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	nsv3598	chr1:173693027-173738687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173685200-173724600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:173685400-173725000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:173685800-173724800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:173686800-173725400	Weak transcription	Right Ventricle	heart
5	chr1:173694600-173724800	Weak transcription	HMEC	breast
6	chr1:173695400-173726000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:173695800-173725000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:173695800-173726000	Weak transcription	Esophagus	oesophagus
9	chr1:173695800-173729800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:173696200-173726000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:173696600-173723000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:173698000-173724800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:173699600-173725800	Weak transcription	Fetal Kidney	kidney
14	chr1:173703400-173725000	Weak transcription	Colonic Mucosa	Colon
15	chr1:173703400-173725000	Weak transcription	Psoas Muscle	Psoas
16	chr1:173703400-173726000	Weak transcription	Aorta	Aorta
17	chr1:173703400-173726000	Weak transcription	Spleen	Spleen
18	chr1:173703400-173726000	Weak transcription	NHEK	skin
19	chr1:173703600-173724400	Weak transcription	Brain Substantia Nigra	brain
20	chr1:173703600-173724400	Weak transcription	GM12878-XiMat	blood
21	chr1:173703600-173724400	Weak transcription	HSMMtube	muscle
22	chr1:173703600-173724800	Weak transcription	Pancreas	Pancrea
23	chr1:173703800-173728200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:173704200-173725000	Weak transcription	NHLF	lung
25	chr1:173704400-173724400	Weak transcription	Gastric	stomach
26	chr1:173704400-173725000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:173704400-173725200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:173705000-173723600	Weak transcription	Lung	lung
29	chr1:173705400-173724800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:173705600-173724800	Weak transcription	Brain Angular Gyrus	brain
31	chr1:173705800-173725400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:173706400-173722600	Weak transcription	HepG2	liver
33	chr1:173707600-173722600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:173710200-173726000	Weak transcription	Brain Germinal Matrix	brain
35	chr1:173711600-173724800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:173711800-173724000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:173713400-173731600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr1:173718600-173725000	Weak transcription	NHDF-Ad	bronchial
39	chr1:173718800-173725800	Weak transcription	A549	lung
40	chr1:173719200-173724800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:173719400-173722800	Strong transcription	Fetal Stomach	stomach
42	chr1:173719600-173722800	Strong transcription	Fetal Intestine Large	intestine
43	chr1:173720000-173722800	Strong transcription	Left Ventricle	heart
44	chr1:173720000-173724800	Weak transcription	Fetal Brain Male	brain
45	chr1:173720000-173730000	Strong transcription	Primary B cells from cord blood	blood
46	chr1:173720000-173730600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:173720200-173722800	Strong transcription	K562	blood
48	chr1:173720200-173727400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:173720200-173728000	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr1:173720200-173729000	Strong transcription	Sigmoid Colon	Sigmoid Colon

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