Variant report

Variant	rs1168101
Chromosome Location	chr1:63127415-63127416
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:63126981..63129509-chr1:63133122..63135258,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10889346	1.00[AMR][1000 genomes]
rs1168007	0.83[YRI][hapmap]
rs1168012	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1168014	1.00[AMR][1000 genomes]
rs1168019	1.00[AMR][1000 genomes]
rs1168024	0.83[YRI][hapmap]
rs1168033	1.00[AMR][1000 genomes]
rs1168037	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1168039	1.00[AMR][1000 genomes]
rs1168043	0.84[ASW][hapmap];0.90[LWK][hapmap]
rs1168084	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168090	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168092	0.90[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168095	0.90[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168115	0.84[ASW][hapmap]
rs1168123	0.90[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168131	0.85[AFR][1000 genomes]
rs1183265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1628350	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1690764	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs17123733	1.00[AMR][1000 genomes]
rs1748186	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1748191	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1748193	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1781194	1.00[AMR][1000 genomes]
rs1781197	1.00[AMR][1000 genomes]
rs2769486	1.00[AMR][1000 genomes]
rs4329539	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs6587979	1.00[AMR][1000 genomes]
rs74078654	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7515054	0.90[YRI][hapmap]
rs7522249	1.00[ASW][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][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	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63082800-63132600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:63088000-63134600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:63096800-63129400	Weak transcription	Esophagus	oesophagus
4	chr1:63099600-63137000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:63107400-63129600	Weak transcription	NHLF	lung
6	chr1:63107400-63132200	Weak transcription	Brain Germinal Matrix	brain
7	chr1:63107400-63151200	Weak transcription	Pancreas	Pancrea
8	chr1:63107600-63147800	Weak transcription	NHEK	skin
9	chr1:63108800-63151200	Weak transcription	Fetal Stomach	stomach
10	chr1:63109000-63130600	Weak transcription	Fetal Intestine Small	intestine
11	chr1:63109000-63147800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:63109200-63143000	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:63109200-63150200	Weak transcription	Fetal Brain Male	brain
14	chr1:63110200-63140800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:63111400-63129800	Weak transcription	Primary T cells from cord blood	blood
16	chr1:63111400-63150200	Weak transcription	Fetal Lung	lung
17	chr1:63112400-63137600	Weak transcription	Fetal Intestine Large	intestine
18	chr1:63112400-63140800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:63112400-63142400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:63112400-63142800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:63112400-63152400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:63113200-63134600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:63113400-63128000	Weak transcription	Placenta	Placenta
24	chr1:63113400-63132800	Weak transcription	A549	lung
25	chr1:63113400-63142400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:63113400-63142400	Weak transcription	Osteobl	bone
27	chr1:63113600-63151000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:63113600-63152800	Weak transcription	Primary B cells from cord blood	blood
29	chr1:63114000-63128200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:63114000-63128200	Weak transcription	HMEC	breast
31	chr1:63114000-63143000	Weak transcription	Aorta	Aorta
32	chr1:63118000-63131200	Weak transcription	Ovary	ovary
33	chr1:63118000-63150800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr1:63118200-63147600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr1:63118800-63130400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:63119000-63148000	Weak transcription	Fetal Brain Female	brain
37	chr1:63119600-63130600	Weak transcription	Liver	Liver
38	chr1:63119800-63128800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:63119800-63132200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:63119800-63132600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:63119800-63132600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:63119800-63134600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:63119800-63134800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:63119800-63138800	Weak transcription	Fetal Kidney	kidney
45	chr1:63119800-63142400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:63119800-63142400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:63119800-63150200	Weak transcription	Adipose Nuclei	Adipose
48	chr1:63120400-63136600	Weak transcription	Dnd41	blood
49	chr1:63123000-63134800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:63123000-63140800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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