Variant report

Variant	rs2306616
Chromosome Location	chr11:72415528-72415529
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr11:72415506-72415963	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:72415408-72415715	GM12891	blood:	n/a	n/a
3	HMGN3	chr11:72415192-72415676	K562	blood:	n/a	n/a
4	POLR2A	chr11:72415182-72415677	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:72414914-72415678	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:72414445-72416273	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:72414464-72415767	HL-60	blood:	n/a	n/a
8	POLR2A	chr11:72415074-72415812	GM12878	blood:	n/a	n/a
9	CTCF	chr11:72415380-72415530	GM12875	blood:	n/a	n/a
10	POLR2A	chr11:72415445-72415669	K562	blood:	n/a	n/a
11	SIN3A	chr11:72415267-72415908	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:72413368-72416327	K562	blood:	n/a	n/a
13	TEAD4	chr11:72415515-72415885	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr11:72415375-72416046	GM12892	blood:	n/a	n/a
15	POLR2A	chr11:72415174-72415532	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72414882..72417123-chr11:72529003..72531110,2	MCF-7	breast:
2	chr11:72414757..72417563-chr11:72418152..72422478,6	K562	blood:
3	chr11:72407255..72411434-chr11:72413782..72416688,5	K562	blood:
4	chr11:72407255..72410533-chr11:72414719..72416593,4	K562	blood:

No data

Variant related genes	Relation type
ARAP1	TF binding region
RPS12P20	TF binding region
ENSG00000186635	Chromatin interaction
ENSG00000244134	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10898866	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11235569	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs11235575	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs11607038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576058	0.84[JPT][hapmap]
rs1872126	0.84[JPT][hapmap]
rs2291289	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2306607	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs341053	0.84[JPT][hapmap]
rs34502849	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs900613	0.89[JPT][hapmap]
rs900614	0.89[JPT][hapmap]

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	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
3	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv555408	chr11:72405223-72441431	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv555409	chr11:72405450-72423385	Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv468636	chr11:72405868-72431679	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv555410	chr11:72405868-72431679	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2306616	STARD10	cis	Adipose Subcutaneous	GTEx
rs2306616	STARD10	cis	Whole Blood	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72393800-72423200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr11:72394000-72426800	Strong transcription	Thymus	Thymus
3	chr11:72394200-72423600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr11:72394200-72425800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:72394200-72429000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr11:72394400-72423200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:72394400-72423800	Strong transcription	Duodenum Mucosa	Duodenum
8	chr11:72394400-72424400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:72394600-72428800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:72394600-72429400	Strong transcription	Primary T cells from cord blood	blood
11	chr11:72394600-72430200	Strong transcription	Dnd41	blood
12	chr11:72395000-72423800	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr11:72395000-72429800	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:72395200-72425600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr11:72395200-72429000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:72396000-72425600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:72396000-72426000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr11:72396200-72423200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:72396400-72425400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:72397000-72423400	Strong transcription	Primary B cells from cord blood	blood
21	chr11:72397800-72425200	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:72397800-72426000	Strong transcription	Fetal Thymus	thymus
23	chr11:72398000-72425200	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr11:72398600-72423800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr11:72398600-72424400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:72398600-72426000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:72398800-72423600	Weak transcription	Right Atrium	heart
28	chr11:72398800-72425200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:72401000-72423600	Strong transcription	Liver	Liver
30	chr11:72404200-72423600	Weak transcription	Fetal Brain Male	brain
31	chr11:72405000-72429600	Weak transcription	Psoas Muscle	Psoas
32	chr11:72406400-72426200	Strong transcription	Pancreas	Pancrea
33	chr11:72408800-72415800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:72408800-72417400	Weak transcription	K562	blood
35	chr11:72408800-72418800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr11:72409000-72432600	Strong transcription	HepG2	liver
37	chr11:72411000-72415800	Enhancers	Fetal Heart	heart
38	chr11:72411200-72416400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr11:72411600-72415800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:72411600-72417600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr11:72412200-72424000	Strong transcription	NHEK	skin
42	chr11:72412400-72415800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:72412400-72421000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:72412600-72415800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:72412600-72415800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:72412800-72422400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:72413000-72416200	Weak transcription	HUVEC	blood vessel
48	chr11:72413000-72418400	Weak transcription	Hela-S3	cervix
49	chr11:72413000-72419400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:72413000-72419600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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