Variant report

Variant	rs384893
Chromosome Location	chr1:61606167-61606168
allele	C/T
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:61599402..61604405-chr1:61604981..61606872,4	K562	blood:
2	chr1:61603444..61606852-chr1:61607360..61609614,3	K562	blood:
3	chr1:61601892..61604405-chr1:61604981..61606872,2	K562	blood:
4	chr1:61599335..61602150-chr1:61604972..61607069,2	MCF-7	breast:
5	chr1:61605390..61608358-chr1:61610014..61613874,4	K562	blood:
6	chr1:61514859..61517241-chr1:61605868..61607629,2	K562	blood:
7	chr1:61546479..61549728-chr1:61604442..61607860,4	K562	blood:
8	chr1:61598222..61600902-chr1:61603956..61606855,3	K562	blood:
9	chr1:61602650..61606392-chr1:61608664..61611544,4	MCF-7	breast:
10	chr1:61584667..61586384-chr1:61605041..61607679,2	K562	blood:
11	chr1:61588517..61590728-chr1:61605317..61607280,2	K562	blood:
12	chr1:61605602..61607167-chr1:61748089..61750819,2	K562	blood:
13	chr1:61605231..61608148-chr1:61617822..61620797,4	K562	blood:
14	chr1:61582751..61584535-chr1:61605454..61607755,2	K562	blood:
15	chr1:61605495..61608078-chr1:61787528..61789872,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000263380	Chromatin interaction
ENSG00000270742	Chromatin interaction
ENSG00000162599	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10493302	0.84[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10889206	1.00[CEU][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12082005	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12133298	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1391432	1.00[CEU][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1909118	1.00[CEU][hapmap];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2050544	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2807990	1.00[CEU][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs334707	0.81[CHB][hapmap];0.85[YRI][hapmap]
rs334708	0.84[YRI][hapmap];0.80[AFR][1000 genomes]
rs334735	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs334736	0.87[EUR][1000 genomes]
rs334738	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4430360	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6670604	1.00[CEU][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9436630	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61587000-61606800	Weak transcription	Fetal Intestine Large	intestine
2	chr1:61599000-61606200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:61600000-61617200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:61603800-61607000	Enhancers	Left Ventricle	heart
5	chr1:61603800-61607200	Enhancers	Psoas Muscle	Psoas
6	chr1:61603800-61607400	Enhancers	Aorta	Aorta
7	chr1:61603800-61608400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:61604000-61608400	Weak transcription	Lung	lung
9	chr1:61604400-61606800	Enhancers	Brain Hippocampus Middle	brain
10	chr1:61604400-61609200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:61604600-61606400	Enhancers	Placenta	Placenta
12	chr1:61604600-61607800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:61604600-61607800	Enhancers	Fetal Muscle Leg	muscle
14	chr1:61604600-61608800	Enhancers	Brain Anterior Caudate	brain
15	chr1:61604600-61609000	Enhancers	Liver	Liver
16	chr1:61604600-61610400	Enhancers	Brain Substantia Nigra	brain
17	chr1:61604800-61606200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr1:61604800-61606600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:61604800-61606800	Enhancers	Osteobl	bone
20	chr1:61604800-61607400	Enhancers	Fetal Brain Male	brain
21	chr1:61604800-61607600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:61604800-61607600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:61604800-61607600	Enhancers	Ovary	ovary
24	chr1:61604800-61607600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr1:61604800-61607800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr1:61604800-61607800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:61604800-61608000	Enhancers	Fetal Heart	heart
28	chr1:61604800-61608600	Enhancers	Adipose Nuclei	Adipose
29	chr1:61604800-61608600	Enhancers	HepG2	liver
30	chr1:61604800-61608800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr1:61604800-61609400	Enhancers	Brain Cingulate Gyrus	brain
32	chr1:61604800-61610000	Enhancers	Colon Smooth Muscle	Colon
33	chr1:61604800-61610200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:61605000-61606200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:61605000-61606400	Enhancers	Primary hematopoietic stem cells	blood
36	chr1:61605000-61606600	Enhancers	Stomach Smooth Muscle	stomach
37	chr1:61605000-61606800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:61605000-61607000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr1:61605000-61607400	Enhancers	Fetal Brain Female	brain
40	chr1:61605000-61607600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:61605000-61607600	Enhancers	Brain Germinal Matrix	brain
42	chr1:61605000-61607600	Enhancers	Right Atrium	heart
43	chr1:61605000-61607600	Enhancers	Small Intestine	intestine
44	chr1:61605000-61607800	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr1:61605000-61607800	Flanking Active TSS	K562	blood
46	chr1:61605000-61608600	Enhancers	Fetal Lung	lung
47	chr1:61605200-61606600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:61605200-61606600	Enhancers	Right Ventricle	heart
49	chr1:61605200-61606800	Enhancers	NHEK	skin
50	chr1:61605200-61606800	Weak transcription	NHLF	lung

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