Variant report

Variant	rs13235033
Chromosome Location	chr7:104871541-104871542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104867894..104871932-chr7:104875141..104878987,5	K562	blood:
2	chr7:104870200..104871932-chr7:104876132..104878987,2	K562	blood:
3	chr7:104869735..104872219-chr7:104880789..104883644,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10238507	0.94[JPT][hapmap]
rs10241415	0.94[JPT][hapmap]
rs10266871	0.94[JPT][hapmap]
rs10277120	0.94[JPT][hapmap]
rs10281422	0.94[JPT][hapmap]
rs10487150	0.94[JPT][hapmap]
rs10953468	0.94[JPT][hapmap]
rs10953470	0.87[JPT][hapmap]
rs1142	0.94[JPT][hapmap]
rs1144	0.94[JPT][hapmap]
rs11980772	0.81[EUR][1000 genomes]
rs1204056	0.94[JPT][hapmap]
rs1204058	0.94[JPT][hapmap]
rs1204066	0.93[JPT][hapmap]
rs1204077	0.94[JPT][hapmap]
rs1204080	0.93[JPT][hapmap]
rs12334245	0.94[JPT][hapmap]
rs12668040	0.81[GIH][hapmap];0.87[JPT][hapmap];0.97[TSI][hapmap];0.84[EUR][1000 genomes]
rs13238191	0.94[JPT][hapmap]
rs17721873	0.87[JPT][hapmap]
rs2030776	0.94[JPT][hapmap]
rs2040914	0.94[JPT][hapmap]
rs2057883	0.94[JPT][hapmap]
rs2057884	0.80[CHD][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2237612	0.87[JPT][hapmap];0.88[EUR][1000 genomes]
rs2237613	0.94[JPT][hapmap]
rs2237617	0.93[JPT][hapmap]
rs2240463	0.94[JPT][hapmap]
rs2299304	0.94[JPT][hapmap]
rs2299308	0.94[JPT][hapmap]
rs2299319	0.94[JPT][hapmap]
rs3779210	0.94[JPT][hapmap]
rs3801278	0.94[JPT][hapmap]
rs3801281	0.94[JPT][hapmap]
rs3801282	0.94[JPT][hapmap]
rs3801285	0.94[JPT][hapmap]
rs3801999	0.94[JPT][hapmap]
rs41562	0.94[JPT][hapmap]
rs41563	0.94[JPT][hapmap]
rs4730070	0.97[TSI][hapmap]
rs4730072	0.94[JPT][hapmap]
rs4730073	0.94[JPT][hapmap]
rs4730080	0.94[JPT][hapmap]
rs4730082	0.94[JPT][hapmap]
rs6466053	0.94[JPT][hapmap]
rs6466056	0.94[JPT][hapmap]
rs6466057	0.94[JPT][hapmap]
rs6466064	0.94[JPT][hapmap]
rs6943183	0.94[JPT][hapmap]
rs6950620	0.94[JPT][hapmap]
rs6962856	0.94[JPT][hapmap]
rs6967587	0.94[JPT][hapmap]
rs7357199	0.93[JPT][hapmap]
rs7797912	0.94[JPT][hapmap]
rs7806591	0.94[JPT][hapmap]
rs917114	0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13235033	MLL5	cis	brain	BrainEAC

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104851600-104878600	Weak transcription	Right Ventricle	heart
2	chr7:104859000-104878600	Weak transcription	Gastric	stomach
3	chr7:104860200-104877200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:104861000-104872200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:104862200-104873800	Weak transcription	Spleen	Spleen
6	chr7:104863600-104878400	Weak transcription	Aorta	Aorta
7	chr7:104863800-104873400	Weak transcription	Ovary	ovary
8	chr7:104863800-104877000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr7:104863800-104878600	Weak transcription	Pancreas	Pancrea
10	chr7:104864200-104878400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:104865600-104878600	Weak transcription	Left Ventricle	heart
12	chr7:104865800-104874800	Weak transcription	Adipose Nuclei	Adipose
13	chr7:104866000-104874000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:104866000-104876400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:104866000-104877400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:104866000-104878600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:104866200-104873400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr7:104866200-104873800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr7:104866400-104872400	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr7:104866400-104873400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:104866400-104876200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr7:104866400-104876200	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:104866400-104876400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:104866400-104879400	Weak transcription	NHLF	lung
25	chr7:104866400-104881000	Weak transcription	GM12878-XiMat	blood
26	chr7:104866400-104881600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:104866400-104887200	Weak transcription	Small Intestine	intestine
28	chr7:104866600-104871600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:104866600-104872000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:104866600-104878800	Weak transcription	A549	lung
31	chr7:104866600-104881200	Weak transcription	NHDF-Ad	bronchial
32	chr7:104868200-104878600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr7:104868400-104885400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr7:104869000-104871800	Flanking Active TSS	NHEK	skin
35	chr7:104869000-104872000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:104869000-104872600	Strong transcription	Primary B cells from cord blood	blood
37	chr7:104869200-104892000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:104869400-104874200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:104869400-104880000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:104869400-104885000	Weak transcription	Fetal Muscle Leg	muscle
41	chr7:104869400-104885000	Weak transcription	Lung	lung
42	chr7:104869400-104885200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:104869400-104885600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:104869600-104874400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:104869600-104875000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:104869600-104875000	Weak transcription	Thymus	Thymus
47	chr7:104869600-104876800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr7:104869600-104878000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr7:104869600-104878200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr7:104869600-104878600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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