Variant report

Variant	rs67696165
Chromosome Location	chr1:226365409-226365410
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226346626..226351068-chr1:226361955..226365642,5	K562	blood:
2	chr1:226361074..226366865-chr1:226367198..226369813,7	K562	blood:
3	chr1:226355519..226358833-chr1:226364229..226365851,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182827	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1043641	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10495243	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12402078	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56381945	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58322813	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58416350	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66520928	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66527714	0.92[AFR][1000 genomes]
rs67431141	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72759068	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759069	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759091	0.87[AFR][1000 genomes]
rs72759098	0.89[EUR][1000 genomes]
rs9659809	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9662238	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9725713	0.80[AFR][1000 genomes]
rs9727021	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9727329	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226324000-226372800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:226340400-226369600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:226347000-226369600	Weak transcription	Psoas Muscle	Psoas
4	chr1:226349000-226366400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:226349000-226373400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:226349400-226369200	Weak transcription	Fetal Heart	heart
7	chr1:226349800-226366400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:226350000-226370200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:226350000-226373200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:226350600-226369000	Weak transcription	Hela-S3	cervix
11	chr1:226350800-226369600	Weak transcription	Right Ventricle	heart
12	chr1:226351000-226369800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:226352200-226372800	Weak transcription	Fetal Kidney	kidney
14	chr1:226352400-226368200	Weak transcription	HSMM	muscle
15	chr1:226352600-226369200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:226352600-226370000	Weak transcription	Fetal Brain Female	brain
17	chr1:226352600-226370400	Weak transcription	Brain Angular Gyrus	brain
18	chr1:226352600-226372200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:226352600-226372400	Weak transcription	Brain Anterior Caudate	brain
20	chr1:226352600-226372800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:226352600-226373000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:226352600-226373400	Weak transcription	Esophagus	oesophagus
23	chr1:226352800-226372000	Weak transcription	Colonic Mucosa	Colon
24	chr1:226353000-226369400	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:226353000-226369600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:226353000-226370200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:226353000-226372000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:226353200-226365600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:226353200-226369600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr1:226353200-226372000	Weak transcription	HUVEC	blood vessel
31	chr1:226353400-226372400	Weak transcription	Brain Germinal Matrix	brain
32	chr1:226353600-226368800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:226353600-226369000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:226353600-226369600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:226353600-226369600	Weak transcription	Fetal Lung	lung
36	chr1:226353600-226369800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:226353600-226372000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr1:226353800-226367600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:226353800-226368000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:226353800-226368000	Weak transcription	Fetal Thymus	thymus
41	chr1:226353800-226368800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:226353800-226368800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:226353800-226369000	Weak transcription	Liver	Liver
44	chr1:226353800-226369600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr1:226353800-226370000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:226353800-226370400	Weak transcription	NH-A	brain
47	chr1:226353800-226372800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:226354000-226368000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:226354000-226370000	Weak transcription	Colon Smooth Muscle	Colon
50	chr1:226354000-226372400	Weak transcription	Thymus	Thymus

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