Variant report

Variant	rs16985337
Chromosome Location	chr20:23384487-23384488
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23342042..23345499-chr20:23382755..23385240,3	MCF-7	breast:
2	chr20:23383896..23386214-chr20:23390007..23393764,3	MCF-7	breast:
3	chr20:23381253..23384525-chr20:23386281..23388219,3	K562	blood:
4	chr20:23336285..23337868-chr20:23382600..23384693,2	MCF-7	breast:
5	chr20:23334379..23336335-chr20:23383876..23386764,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125812	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10485644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1076777	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1109557	0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes]
rs1122407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12624341	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12625187	0.86[AMR][1000 genomes]
rs12625257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12625297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12625468	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12625489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12625948	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12625959	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12625994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16985266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs16985303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2273237	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34036626	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34831633	0.89[AMR][1000 genomes]
rs3736756	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3761276	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3761278	0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs56393556	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56693860	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56725318	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57034369	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs57322153	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57436024	0.84[AMR][1000 genomes]
rs57535381	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57896475	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58192622	0.89[AMR][1000 genomes]
rs59143301	0.89[AMR][1000 genomes]
rs59852988	0.96[EUR][1000 genomes]
rs60799291	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61024391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61297472	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61344818	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7265627	0.89[AMR][1000 genomes]
rs73901826	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73901859	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73901870	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8115832	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8117246	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8123389	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8125332	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16985337	CSTL1	cis	Esophagus Mucosa	GTEx
rs16985337	CSTL1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:121 , 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	chr20:23372800-23400800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr20:23375000-23389800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:23375600-23384600	Weak transcription	Brain Germinal Matrix	brain
9	chr20:23375600-23390600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr20:23375600-23396800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr20:23375600-23400000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr20:23375800-23384600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr20:23375800-23384600	Weak transcription	HMEC	breast
14	chr20:23375800-23385000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr20:23375800-23386800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr20:23375800-23387600	Weak transcription	K562	blood
17	chr20:23375800-23388200	Weak transcription	Small Intestine	intestine
18	chr20:23375800-23388600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr20:23375800-23396200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr20:23375800-23400000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr20:23375800-23400200	Weak transcription	Fetal Brain Male	brain
22	chr20:23376000-23384600	Weak transcription	NHLF	lung
23	chr20:23376000-23384800	Weak transcription	Esophagus	oesophagus
24	chr20:23376000-23388600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr20:23376000-23389000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr20:23376000-23390400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr20:23376200-23389000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr20:23376600-23400400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr20:23376800-23391800	Weak transcription	Adipose Nuclei	Adipose
30	chr20:23377000-23398400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr20:23378000-23385000	Weak transcription	Aorta	Aorta
32	chr20:23378200-23388200	Weak transcription	Brain Anterior Caudate	brain
33	chr20:23378200-23391800	Weak transcription	Brain Angular Gyrus	brain
34	chr20:23378200-23400000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr20:23378400-23399800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr20:23378800-23384600	Weak transcription	Colon Smooth Muscle	Colon
37	chr20:23378800-23390400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr20:23378800-23391800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr20:23378800-23396400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr20:23378800-23399800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr20:23379000-23389600	Weak transcription	Brain Hippocampus Middle	brain
42	chr20:23379000-23400000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr20:23379000-23400200	Weak transcription	Primary B cells from cord blood	blood
44	chr20:23379000-23400400	Weak transcription	Brain Substantia Nigra	brain
45	chr20:23379200-23392600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr20:23379200-23400000	Weak transcription	HUVEC	blood vessel
47	chr20:23379200-23400200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr20:23379400-23385000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr20:23380400-23388200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr20:23380400-23388600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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