Variant report

Variant	rs61344818
Chromosome Location	chr20:23379861-23379862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23377748..23380107-chr20:23380413..23383027,2	MCF-7	breast:
2	chr20:23365990..23367879-chr20:23377363..23380103,2	MCF-7	breast:
3	chr20:23336291..23339016-chr20:23377494..23379977,2	K562	blood:
4	chr20:23376182..23378262-chr20:23379017..23380696,2	K562	blood:

Variant related genes	Relation type
ENSG00000232645	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10485644	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1076777	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1109557	0.94[AMR][1000 genomes]
rs1122407	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12624341	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12625187	0.81[AMR][1000 genomes]
rs12625257	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12625297	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12625468	0.96[EUR][1000 genomes]
rs12625489	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12625948	0.94[AMR][1000 genomes]
rs12625959	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12625994	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16985303	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16985337	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2273237	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34036626	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34831633	0.94[AMR][1000 genomes]
rs3736756	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761276	0.85[AMR][1000 genomes]
rs3761278	0.94[AMR][1000 genomes]
rs56393556	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56693860	0.96[EUR][1000 genomes]
rs56725318	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57034369	1.00[AMR][1000 genomes]
rs57322153	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57436024	0.89[AMR][1000 genomes]
rs57535381	0.94[AMR][1000 genomes]
rs57896475	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58192622	0.94[AMR][1000 genomes]
rs59143301	0.94[AMR][1000 genomes]
rs59852988	0.96[EUR][1000 genomes]
rs60799291	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61024391	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61297472	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7265627	0.94[AMR][1000 genomes]
rs73901826	0.96[EUR][1000 genomes]
rs73901859	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73901870	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8115832	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8117246	0.96[EUR][1000 genomes]
rs8123389	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8125332	0.96[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61344818	CSTL1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23344000-23392600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:23348200-23384800	Weak transcription	Stomach Mucosa	stomach
3	chr20:23354400-23389000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr20:23354400-23399800	Weak transcription	Hela-S3	cervix
5	chr20:23361200-23399600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr20:23366800-23382400	Strong transcription	Dnd41	blood
7	chr20:23367800-23380400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr20:23372800-23400800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr20:23375000-23380200	Weak transcription	GM12878-XiMat	blood
10	chr20:23375000-23389800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:23375200-23380200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr20:23375200-23381600	Weak transcription	Fetal Intestine Small	intestine
13	chr20:23375400-23381200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr20:23375600-23381600	Weak transcription	Fetal Thymus	thymus
15	chr20:23375600-23381800	Weak transcription	Gastric	stomach
16	chr20:23375600-23384400	Weak transcription	Fetal Lung	lung
17	chr20:23375600-23384600	Weak transcription	Brain Germinal Matrix	brain
18	chr20:23375600-23390600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr20:23375600-23396800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr20:23375600-23400000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr20:23375800-23381600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr20:23375800-23382800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr20:23375800-23383800	Weak transcription	Colonic Mucosa	Colon
24	chr20:23375800-23384600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr20:23375800-23384600	Weak transcription	HMEC	breast
26	chr20:23375800-23385000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr20:23375800-23386800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr20:23375800-23387600	Weak transcription	K562	blood
29	chr20:23375800-23388200	Weak transcription	Small Intestine	intestine
30	chr20:23375800-23388600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr20:23375800-23396200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr20:23375800-23400000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr20:23375800-23400200	Weak transcription	Fetal Brain Male	brain
34	chr20:23376000-23380000	Weak transcription	Lung	lung
35	chr20:23376000-23380000	Weak transcription	Thymus	Thymus
36	chr20:23376000-23380200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr20:23376000-23380200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr20:23376000-23380200	Weak transcription	HSMMtube	muscle
39	chr20:23376000-23380600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr20:23376000-23381200	Weak transcription	Fetal Brain Female	brain
41	chr20:23376000-23381400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr20:23376000-23381600	Weak transcription	Pancreas	Pancrea
43	chr20:23376000-23381800	Weak transcription	Fetal Muscle Leg	muscle
44	chr20:23376000-23381800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr20:23376000-23381800	Weak transcription	Spleen	Spleen
46	chr20:23376000-23383800	Weak transcription	Fetal Kidney	kidney
47	chr20:23376000-23384400	Weak transcription	Placenta	Placenta
48	chr20:23376000-23384600	Weak transcription	NHLF	lung
49	chr20:23376000-23384800	Weak transcription	Esophagus	oesophagus
50	chr20:23376000-23388600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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