Variant report

Variant	rs257376
Chromosome Location	chr7:106799997-106799998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:106799421..106803787-chr7:106805405..106809960,5	MCF-7	breast:
2	chr7:106434606..106436952-chr7:106799111..106800792,2	K562	blood:
3	chr7:106586419..106590200-chr7:106798187..106800242,3	K562	blood:
4	chr7:106797757..106800880-chr7:106802279..106806072,3	MCF-7	breast:
5	chr7:106417789..106419895-chr7:106798550..106801273,2	K562	blood:
6	chr7:106797478..106801451-chr7:106801787..106803813,4	K562	blood:

Variant related genes	Relation type
ENSG00000105856	Chromatin interaction
ENSG00000228742	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10260250	0.88[CEU][hapmap];0.82[TSI][hapmap]
rs2158347	0.92[CEU][hapmap];0.84[TSI][hapmap]
rs2237667	0.85[CEU][hapmap]
rs2395836	0.96[CEU][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap]
rs2395839	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs257384	0.96[CEU][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes]
rs4730221	0.96[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6954422	0.88[CEU][hapmap]
rs6966616	0.88[CEU][hapmap];0.82[TSI][hapmap]
rs6969719	0.85[CEU][hapmap]
rs6971864	0.92[CEU][hapmap]
rs7783805	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831087	chr7:106673465-106872460	Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs257376	MLL5	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106760400-106808400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:106763000-106807800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:106778400-106807800	Weak transcription	Brain Germinal Matrix	brain
4	chr7:106780000-106807800	Weak transcription	Fetal Heart	heart
5	chr7:106782600-106808000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:106782800-106807800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:106783600-106807600	Weak transcription	Fetal Stomach	stomach
8	chr7:106784200-106802600	Strong transcription	K562	blood
9	chr7:106785400-106808000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:106785800-106807600	Weak transcription	Fetal Kidney	kidney
11	chr7:106787400-106805800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:106788000-106805800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:106788000-106808000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:106788200-106807600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:106788400-106808000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:106788600-106805800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:106788800-106805800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:106788800-106807200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:106788800-106807600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:106788800-106807800	Weak transcription	Ovary	ovary
21	chr7:106789400-106808200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:106790000-106807200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:106791000-106805600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:106791000-106806800	Weak transcription	Fetal Intestine Large	intestine
25	chr7:106791000-106807600	Weak transcription	Brain Anterior Caudate	brain
26	chr7:106791200-106807800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr7:106792200-106808400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:106793000-106804000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:106794000-106807200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:106794000-106808200	Weak transcription	Left Ventricle	heart
31	chr7:106795600-106808400	Weak transcription	Gastric	stomach
32	chr7:106797400-106801400	Strong transcription	Adipose Nuclei	Adipose
33	chr7:106797800-106807600	Weak transcription	Fetal Brain Female	brain
34	chr7:106798200-106807400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:106798400-106807000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:106799200-106800000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr7:106799200-106800600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr7:106799200-106805800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr7:106799400-106800200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr7:106799400-106800400	Strong transcription	HUVEC	blood vessel
41	chr7:106799800-106801400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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