Variant report

Variant	rs11630591
Chromosome Location	chr15:93190529-93190530
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	chr15:93187253..93189925-chr15:93190048..93192032,2	K562	blood:
2	chr1:149857354..149859026-chr15:93189018..93191776,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185442	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000184678	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12050771	0.94[ASN][1000 genomes]
rs2077611	1.00[CEU][hapmap]
rs285761	0.95[ASN][1000 genomes]
rs285770	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3743360	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs58898424	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61165177	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62022576	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62022578	1.00[EUR][1000 genomes]
rs62022580	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62022581	0.89[AMR][1000 genomes];0.92[EUR][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	nsv1037972	chr15:92804908-93270761	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
3	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
5	esv1808537	chr15:93146057-93191935	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1040501	chr15:93177153-93286393	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93171000-93197400	Weak transcription	Primary T cells from cord blood	blood
2	chr15:93182000-93197800	Weak transcription	Small Intestine	intestine
3	chr15:93182400-93190600	Weak transcription	Psoas Muscle	Psoas
4	chr15:93182400-93191200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr15:93182600-93197200	Weak transcription	Fetal Kidney	kidney
6	chr15:93183200-93198400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr15:93186000-93190600	Weak transcription	Fetal Intestine Small	intestine
8	chr15:93186400-93194200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr15:93186800-93191400	Enhancers	Stomach Mucosa	stomach
10	chr15:93186800-93192800	Enhancers	HUVEC	blood vessel
11	chr15:93187000-93190600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr15:93187200-93193000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:93187400-93192000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:93187400-93193200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr15:93187400-93194000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr15:93187400-93194000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr15:93187600-93191000	Enhancers	Pancreas	Pancrea
18	chr15:93187600-93195800	Weak transcription	Brain Angular Gyrus	brain
19	chr15:93187800-93195600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr15:93188200-93192200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:93188200-93193000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr15:93188400-93192400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr15:93188400-93192400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr15:93189000-93193400	Weak transcription	Fetal Stomach	stomach
25	chr15:93189000-93194000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr15:93189000-93195600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr15:93189000-93197000	Weak transcription	Brain Hippocampus Middle	brain
28	chr15:93189200-93190600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr15:93189200-93195200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr15:93189200-93195400	Weak transcription	Right Ventricle	heart
31	chr15:93189400-93191600	Weak transcription	Left Ventricle	heart
32	chr15:93189400-93191600	Weak transcription	Lung	lung
33	chr15:93189400-93191600	Weak transcription	GM12878-XiMat	blood
34	chr15:93189400-93193600	Weak transcription	Fetal Lung	lung
35	chr15:93189400-93193600	Weak transcription	Placenta	Placenta
36	chr15:93189400-93194000	Weak transcription	Fetal Muscle Leg	muscle
37	chr15:93189400-93197000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:93189400-93197000	Weak transcription	Esophagus	oesophagus
39	chr15:93189800-93193000	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr15:93190200-93191000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr15:93190200-93191000	Enhancers	HSMM	muscle
42	chr15:93190200-93191000	Enhancers	HSMMtube	muscle
43	chr15:93190400-93190600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr15:93190400-93190600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:93190400-93190600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr15:93190400-93190600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr15:93190400-93190800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr15:93190400-93190800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr15:93190400-93190800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr15:93190400-93191000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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