Variant report

Variant	rs6660601
Chromosome Location	chr1:165695855-165695856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165680183..165682740-chr1:165693137..165696252,3	K562	blood:
2	chr1:165693813..165696621-chr1:165795723..165799900,4	K562	blood:
3	chr1:165687876..165689763-chr1:165694105..165696675,2	K562	blood:
4	chr1:165684207..165686367-chr1:165693698..165695940,2	K562	blood:

Variant related genes	Relation type
ENSG00000143179	Chromatin interaction
ENSG00000143183	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10800135	1.00[JPT][hapmap]
rs10800153	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800154	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10800155	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10918274	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12133745	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12403369	1.00[JPT][hapmap]
rs12691499	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12691500	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1547725	0.91[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs2251768	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs2790049	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2790052	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2790053	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814463	0.83[ASN][1000 genomes]
rs2814466	1.00[JPT][hapmap]
rs2814471	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28504591	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4233408	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4537525	1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4603103	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656460	0.82[AMR][1000 genomes]
rs4656461	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657471	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4657472	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4657474	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4657475	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657476	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657477	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426936	0.86[AMR][1000 genomes]
rs6662839	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668108	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668885	0.84[EUR][1000 genomes]
rs6696454	1.00[CEU][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]
rs71628393	0.83[ASN][1000 genomes]
rs7518099	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524755	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7528177	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7555523	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165685200-165696600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr1:165685200-165721600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:165685600-165705200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:165687600-165696200	Weak transcription	NHLF	lung
5	chr1:165687600-165696800	Weak transcription	GM12878-XiMat	blood
6	chr1:165687600-165705000	Weak transcription	Thymus	Thymus
7	chr1:165687600-165706000	Weak transcription	HepG2	liver
8	chr1:165687600-165709800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:165687600-165709800	Weak transcription	HUVEC	blood vessel
10	chr1:165687600-165737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:165687800-165696200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:165687800-165707000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:165687800-165709800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:165689200-165696400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:165689200-165696400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:165690200-165710800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:165691000-165710000	Weak transcription	Fetal Kidney	kidney
18	chr1:165692200-165696000	Weak transcription	HMEC	breast
19	chr1:165692200-165697000	Weak transcription	Lung	lung
20	chr1:165692600-165697200	Weak transcription	Fetal Intestine Small	intestine
21	chr1:165693200-165696000	Weak transcription	Fetal Brain Female	brain
22	chr1:165693200-165705600	Weak transcription	Ovary	ovary
23	chr1:165693400-165709600	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:165693800-165697600	Weak transcription	Stomach Mucosa	stomach
25	chr1:165693800-165701000	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr1:165693800-165706000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:165694000-165706000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:165694000-165708600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:165694000-165709800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr1:165694000-165709800	Weak transcription	Brain Substantia Nigra	brain
31	chr1:165694000-165711800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:165694200-165696400	Weak transcription	Brain Germinal Matrix	brain
33	chr1:165694200-165696800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:165694200-165705000	Weak transcription	Left Ventricle	heart
35	chr1:165694200-165709800	Weak transcription	Colonic Mucosa	Colon
36	chr1:165694200-165709800	Weak transcription	Pancreas	Pancrea
37	chr1:165694200-165709800	Weak transcription	Spleen	Spleen
38	chr1:165694200-165710000	Weak transcription	NHEK	skin
39	chr1:165694200-165721600	Weak transcription	Aorta	Aorta
40	chr1:165694200-165721600	Weak transcription	Esophagus	oesophagus
41	chr1:165694400-165696000	Weak transcription	A549	lung
42	chr1:165694400-165696800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:165694400-165697400	Strong transcription	Stomach Smooth Muscle	stomach
44	chr1:165694400-165698000	Strong transcription	Placenta	Placenta
45	chr1:165694400-165699200	Strong transcription	Liver	Liver
46	chr1:165694400-165705800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:165694400-165721600	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:165694600-165697400	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:165694600-165697400	Strong transcription	NH-A	brain
50	chr1:165694600-165697600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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