Variant report

Variant	rs1865678
Chromosome Location	chr2:20837469-20837470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20643137..20644982-chr2:20835031..20838121,3	K562	blood:
2	chr2:20755567..20758118-chr2:20834958..20837655,2	MCF-7	breast:
3	chr2:20633992..20655025-chr2:20829429..20854651,127	MCF-7	breast:
4	chr2:20834621..20842195-chr2:20845758..20852616,8	MCF-7	breast:
5	chr2:20835349..20838099-chr2:20838875..20841328,3	MCF-7	breast:
6	chr2:20640108..20658716-chr2:20812153..20855311,258	MCF-7	breast:
7	chr2:20798617..20801050-chr2:20836301..20838004,2	MCF-7	breast:
8	chr2:20837273..20840218-chr2:20850500..20852819,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000118960	Chromatin interaction
ENSG00000228950	Chromatin interaction
ENSG00000143878	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10186292	0.81[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs10186814	0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs10187254	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10191266	0.89[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs10199441	0.95[CHB][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap];0.83[ASN][1000 genomes]
rs10432583	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs1047169	1.00[ASW][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.93[LWK][hapmap];0.93[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11096680	1.00[ASW][hapmap];0.86[GIH][hapmap];0.86[LWK][hapmap];0.91[MKK][hapmap];0.82[TSI][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs11687806	0.84[ASN][1000 genomes]
rs12468175	1.00[ASW][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12476211	0.96[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12710742	0.89[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs12998196	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs1344836	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2033639	0.84[ASN][1000 genomes]
rs2033640	0.82[ASN][1000 genomes]
rs2305457	0.82[TSI][hapmap]
rs3732151	1.00[ASW][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.96[LWK][hapmap];0.98[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs3796064	0.91[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4402715	0.84[ASN][1000 genomes]
rs4666318	0.89[CHB][hapmap];0.89[JPT][hapmap];0.84[YRI][hapmap];0.84[ASN][1000 genomes]
rs4666438	1.00[ASW][hapmap];0.86[GIH][hapmap];0.84[LWK][hapmap];0.93[MKK][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes]
rs4666439	0.84[GIH][hapmap]
rs4666445	0.90[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs4666446	0.89[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs4666447	0.90[CHB][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap];0.84[ASN][1000 genomes]
rs4666449	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs60569709	0.95[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6737130	0.90[CHB][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6750073	0.90[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs7423811	0.84[ASN][1000 genomes]
rs875672	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1008473	chr2:20811359-20879186	Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535599	chr2:20811359-20879186	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv517472	chr2:20814583-20855176	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv873725	chr2:20814583-20855176	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv527901	chr2:20818458-20876386	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
7	nsv999269	chr2:20824833-20869372	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
8	nsv873726	chr2:20829962-20876260	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1865678	HS1BP3	cis	cerebellum	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20815000-20847600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:20817400-20847600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:20817600-20850000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:20818800-20842400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:20819000-20847400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:20819400-20847800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:20820600-20849400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:20820800-20849600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:20823000-20842000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:20824600-20837800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:20824600-20839000	Weak transcription	Dnd41	blood
12	chr2:20825400-20841000	Weak transcription	Primary B cells from cord blood	blood
13	chr2:20828600-20841800	Strong transcription	Primary T cells from cord blood	blood
14	chr2:20828800-20847800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:20832600-20837800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:20832600-20850000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:20833000-20841800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr2:20833600-20837600	Enhancers	Liver	Liver
19	chr2:20833800-20842000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:20833800-20843000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:20834000-20838400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:20834000-20839600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:20834400-20842000	Weak transcription	Fetal Thymus	thymus
24	chr2:20834800-20841000	Weak transcription	Hela-S3	cervix
25	chr2:20834800-20841800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:20834800-20849600	Weak transcription	Small Intestine	intestine
27	chr2:20835200-20839000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:20835400-20841400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:20835400-20849800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:20835600-20840000	Weak transcription	Osteobl	bone
31	chr2:20835600-20840200	Weak transcription	Fetal Brain Female	brain
32	chr2:20835600-20840600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:20835600-20840600	Weak transcription	NH-A	brain
34	chr2:20835600-20840800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:20835600-20841200	Weak transcription	HSMM	muscle
36	chr2:20835600-20842000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:20835600-20847400	Weak transcription	HSMMtube	muscle
38	chr2:20835600-20847600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:20835600-20848800	Weak transcription	Fetal Lung	lung
40	chr2:20835600-20849600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:20835600-20849800	Weak transcription	Fetal Heart	heart
42	chr2:20835800-20839400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:20835800-20840800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:20835800-20841000	Weak transcription	NHEK	skin
45	chr2:20835800-20843000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr2:20836000-20837800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:20836000-20838800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:20836000-20838800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:20836000-20839800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:20836000-20840600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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