Variant report

Variant	rs1930314
Chromosome Location	chr1:61578301-61578302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:61553637..61555847-chr1:61577099..61579668,2	K562	blood:
2	chr1:61546386..61549086-chr1:61577324..61581114,3	K562	blood:

Variant related genes	Relation type
ENSG00000162599	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10789092	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10889207	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207694	0.85[EUR][1000 genomes]
rs11207695	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207696	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12033718	0.81[ASN][1000 genomes]
rs12126737	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142294	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12403502	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12409737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1412712	0.81[ASN][1000 genomes]
rs17121702	0.81[ASN][1000 genomes]
rs17121705	0.81[ASN][1000 genomes]
rs1832184	0.81[ASN][1000 genomes]
rs4620575	0.83[EUR][1000 genomes]
rs4915729	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4915730	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4915731	0.81[ASN][1000 genomes]
rs964091	0.83[EUR][1000 genomes]

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61554600-61581200	Weak transcription	Esophagus	oesophagus
2	chr1:61558600-61581200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:61558600-61586000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:61559000-61582000	Weak transcription	Hela-S3	cervix
5	chr1:61563600-61586000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:61563800-61585600	Weak transcription	NHEK	skin
7	chr1:61563800-61585800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:61564400-61587400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:61567000-61579000	Weak transcription	Left Ventricle	heart
10	chr1:61567600-61581200	Weak transcription	Ovary	ovary
11	chr1:61567600-61582000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:61568000-61580000	Weak transcription	A549	lung
13	chr1:61569200-61581000	Weak transcription	Stomach Mucosa	stomach
14	chr1:61574200-61578400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:61574400-61578800	Enhancers	Liver	Liver
16	chr1:61574600-61580000	Weak transcription	K562	blood
17	chr1:61575000-61586200	Weak transcription	Fetal Intestine Large	intestine
18	chr1:61575600-61578800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:61575800-61578400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:61575800-61578400	Enhancers	Fetal Brain Male	brain
21	chr1:61575800-61578600	Enhancers	Brain Anterior Caudate	brain
22	chr1:61576000-61579600	Enhancers	Brain Hippocampus Middle	brain
23	chr1:61576000-61580600	Weak transcription	Aorta	Aorta
24	chr1:61576000-61582000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:61576200-61578600	Enhancers	Brain Substantia Nigra	brain
26	chr1:61576200-61580000	Weak transcription	Right Ventricle	heart
27	chr1:61576600-61580000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:61576600-61580600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr1:61576600-61580800	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:61576600-61581000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr1:61576600-61581000	Weak transcription	Psoas Muscle	Psoas
32	chr1:61576600-61581200	Weak transcription	Fetal Stomach	stomach
33	chr1:61576600-61581200	Weak transcription	Spleen	Spleen
34	chr1:61576800-61580400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr1:61576800-61581800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:61577200-61578400	Enhancers	Brain Angular Gyrus	brain
37	chr1:61577200-61580600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:61577200-61581600	Weak transcription	Fetal Lung	lung
39	chr1:61577400-61580600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr1:61577400-61580800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:61577400-61581000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:61577400-61581200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:61577400-61581600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:61577400-61582000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:61577400-61582000	Weak transcription	Fetal Brain Female	brain
46	chr1:61577400-61584800	Weak transcription	Fetal Kidney	kidney
47	chr1:61577600-61581000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:61577600-61581000	Weak transcription	Colon Smooth Muscle	Colon
49	chr1:61577600-61581200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr1:61577800-61578600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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