Variant report

Variant	rs11693625
Chromosome Location	chr2:97193347-97193348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97187400..97189644-chr2:97192064..97194393,2	MCF-7	breast:
2	chr2:97186999..97193890-chr2:97195304..97199298,11	MCF-7	breast:
3	chr2:97188038..97189794-chr2:97191659..97193795,2	K562	blood:

Variant related genes	Relation type
ENSG00000235480	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6576978	1.00[MKK][hapmap]
rs6741277	1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11693625	MRPL30	cis	parietal	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97192000-97197200	Weak transcription	Pancreas	Pancrea
2	chr2:97192400-97195600	Enhancers	Spleen	Spleen
3	chr2:97192600-97193400	Flanking Bivalent TSS/Enh	Dnd41	blood
4	chr2:97192600-97194400	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr2:97192800-97193400	Active TSS	Liver	Liver
6	chr2:97192800-97193400	Bivalent/Poised TSS	NHEK	skin
7	chr2:97192800-97193600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr2:97192800-97193600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr2:97192800-97193600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:97192800-97193600	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr2:97192800-97193600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:97192800-97193600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:97192800-97193600	Active TSS	Brain Cingulate Gyrus	brain
14	chr2:97192800-97193600	Active TSS	Brain Hippocampus Middle	brain
15	chr2:97192800-97193600	Active TSS	Colon Smooth Muscle	Colon
16	chr2:97192800-97193600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:97192800-97193600	Active TSS	Rectal Smooth Muscle	rectum
18	chr2:97192800-97193600	Active TSS	HSMM	muscle
19	chr2:97192800-97193800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr2:97192800-97193800	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr2:97192800-97193800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:97192800-97193800	Active TSS	Brain Substantia Nigra	brain
23	chr2:97192800-97194000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr2:97192800-97194000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr2:97192800-97194000	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr2:97192800-97194000	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr2:97192800-97194000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr2:97192800-97194000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr2:97192800-97194800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr2:97192800-97195000	Enhancers	Brain Angular Gyrus	brain
31	chr2:97192800-97195200	Enhancers	Fetal Heart	heart
32	chr2:97193000-97193400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:97193000-97193400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:97193000-97193400	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr2:97193000-97193400	Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr2:97193000-97193400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
37	chr2:97193000-97193400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
38	chr2:97193000-97193600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
39	chr2:97193000-97193600	Active TSS	H9 Cell Line	embryonic stem cell
40	chr2:97193000-97193600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:97193000-97193600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr2:97193000-97193600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:97193000-97193600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:97193000-97193600	Active TSS	Muscle Satellite Cultured Cells	--
45	chr2:97193000-97193600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:97193000-97193600	Active TSS	Fetal Lung	lung
47	chr2:97193000-97193600	Active TSS	Left Ventricle	heart
48	chr2:97193000-97193600	Active TSS	Placenta Amnion	Placenta Amnion
49	chr2:97193000-97193600	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr2:97193000-97193600	Active TSS	Sigmoid Colon	Sigmoid Colon

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