Variant report

Variant	rs2531686
Chromosome Location	chr10:118651011-118651012
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:118647239..118651488-chr10:118651970..118654207,4	MCF-7	breast:
2	chr10:118637537..118640975-chr10:118647484..118651676,4	K562	blood:
3	chr10:118607571..118610860-chr10:118647249..118651335,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225302	Chromatin interaction
ENSG00000188316	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10218905	0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs10510025	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10787735	0.83[EUR][1000 genomes]
rs10886016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10886017	0.84[EUR][1000 genomes]
rs10886021	0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs11197863	0.80[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1122688	0.80[CEU][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs11598817	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12769006	0.81[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs1419832	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1637570	0.85[JPT][hapmap]
rs1637572	0.91[JPT][hapmap];0.80[AMR][1000 genomes]
rs1905538	0.80[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1905542	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1905544	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2101264	0.80[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2118207	0.80[CEU][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2257791	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs2531685	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2531689	0.90[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2531690	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2627194	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2627197	0.91[JPT][hapmap]
rs3781566	0.83[JPT][hapmap]
rs4092881	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4638225	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6585422	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7074047	0.90[ASN][1000 genomes]
rs7077565	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7079724	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7083142	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7089699	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs719012	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs740600	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7903295	0.80[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs879255	0.83[JPT][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2531686	KIAA1598	cis	Whole Blood	GTEx

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118637200-118658800	Weak transcription	Pancreas	Pancrea
2	chr10:118637600-118670400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:118639000-118666600	Weak transcription	Fetal Intestine Small	intestine
4	chr10:118640800-118651600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:118641800-118658800	Weak transcription	K562	blood
6	chr10:118641800-118665200	Weak transcription	HepG2	liver
7	chr10:118641800-118665400	Weak transcription	Fetal Brain Female	brain
8	chr10:118642600-118652800	Weak transcription	Fetal Brain Male	brain
9	chr10:118642600-118670400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr10:118645400-118673200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr10:118646400-118652400	Weak transcription	Fetal Kidney	kidney
12	chr10:118646800-118652800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:118647200-118652800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:118647400-118680000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:118648200-118652800	Weak transcription	Gastric	stomach
16	chr10:118648600-118652600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr10:118648600-118652600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:118648800-118651600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr10:118648800-118652400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr10:118648800-118652600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr10:118648800-118652800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr10:118648800-118659000	Weak transcription	Fetal Intestine Large	intestine
23	chr10:118648800-118698600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr10:118649000-118652400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr10:118649000-118652600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr10:118649200-118651600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr10:118649200-118652600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr10:118649200-118652600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr10:118649200-118652800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr10:118649200-118658800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr10:118649200-118658800	Weak transcription	Liver	Liver
32	chr10:118649200-118670400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr10:118649200-118681200	Weak transcription	Stomach Mucosa	stomach
34	chr10:118649200-118698400	Weak transcription	Esophagus	oesophagus
35	chr10:118649400-118658600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr10:118649400-118665000	Weak transcription	NHEK	skin
37	chr10:118649400-118665200	Weak transcription	Hela-S3	cervix
38	chr10:118649600-118651200	Enhancers	Fetal Muscle Leg	muscle
39	chr10:118649600-118652600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr10:118649600-118652800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr10:118649600-118655800	Weak transcription	A549	lung
42	chr10:118649800-118651400	Weak transcription	Brain Substantia Nigra	brain
43	chr10:118650000-118651200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr10:118650000-118653400	Enhancers	Brain Hippocampus Middle	brain
45	chr10:118650200-118651200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr10:118650200-118651800	Enhancers	HSMMtube	muscle
47	chr10:118650200-118652600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr10:118650200-118653800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr10:118650200-118654000	Enhancers	Brain Cingulate Gyrus	brain
50	chr10:118650200-118656600	Weak transcription	Primary monocytes fromperipheralblood	blood

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