Variant report

Variant	rs610953
Chromosome Location	chr1:70610215-70610216
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	chr1:70608921..70611354-chr1:70613745..70615584,2	K562	blood:
2	chr1:70607998..70610574-chr1:70685135..70686722,2	K562	blood:

Variant related genes	Relation type
ENSG00000228988	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1412867	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17131236	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17131238	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17131241	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34121744	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35522955	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3753818	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs476591	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs522320	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs549843	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56299138	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56873377	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57098486	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs587567	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60409157	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60598073	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61785267	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61785269	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61785270	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61785272	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs632047	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs651717	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs666163	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6664084	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6664480	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6666941	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6700543	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs676753	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74085998	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7533067	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531879	chr1:70386455-70644617	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005397	chr1:70598803-70634585	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	esv1796744	chr1:70604106-70621290	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv1798518	chr1:70604106-70723347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1797140	chr1:70604106-70724622	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv871339	chr1:70605735-70634463	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs610953	SFRS11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70601000-70615400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:70601000-70643200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr1:70601200-70652000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:70603000-70614800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:70603400-70648800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:70605200-70612200	Weak transcription	Primary B cells from cord blood	blood
7	chr1:70605400-70639400	Weak transcription	Brain Anterior Caudate	brain
8	chr1:70606200-70610600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:70606400-70611200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:70606400-70612200	Weak transcription	Primary T cells from cord blood	blood
11	chr1:70606600-70611400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:70606600-70611800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:70606600-70612800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:70606600-70614800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:70606600-70617600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:70606600-70619600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:70606600-70629600	Weak transcription	Fetal Intestine Small	intestine
18	chr1:70606600-70633800	Weak transcription	Fetal Intestine Large	intestine
19	chr1:70606800-70610400	Weak transcription	Fetal Heart	heart
20	chr1:70606800-70612800	Weak transcription	Fetal Kidney	kidney
21	chr1:70606800-70617000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:70606800-70627800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:70606800-70634800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:70606800-70634800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:70606800-70651600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:70606800-70661800	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:70607000-70611400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:70607000-70611800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:70607000-70611800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:70607000-70612200	Weak transcription	HSMM	muscle
31	chr1:70607000-70612800	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:70607000-70612800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:70607000-70613200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:70607000-70613400	Weak transcription	Ovary	ovary
35	chr1:70607000-70621000	Weak transcription	HSMMtube	muscle
36	chr1:70607000-70622400	Weak transcription	K562	blood
37	chr1:70607000-70629600	Weak transcription	Aorta	Aorta
38	chr1:70607000-70633800	Weak transcription	Brain Germinal Matrix	brain
39	chr1:70607000-70670200	Weak transcription	Psoas Muscle	Psoas
40	chr1:70607000-70670400	Weak transcription	Small Intestine	intestine
41	chr1:70607200-70610800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:70607200-70612200	Weak transcription	Osteobl	bone
43	chr1:70607200-70612800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:70607200-70613000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:70607200-70619200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:70607200-70652600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:70607400-70612200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:70607400-70655200	Weak transcription	Colon Smooth Muscle	Colon
49	chr1:70607600-70612000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr1:70607800-70611800	Weak transcription	Left Ventricle	heart

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