Variant report

Variant	rs2385537
Chromosome Location	chr7:104755514-104755515
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104651239..104655549-chr7:104750511..104756006,6	K562	blood:
2	chr7:104744452..104748663-chr7:104752143..104756800,5	K562	blood:
3	chr7:104621712..104624253-chr7:104752670..104756026,3	K562	blood:
4	chr7:104748748..104753813-chr7:104754456..104758355,8	K562	blood:

Variant related genes	Relation type
ENSG00000005483	Chromatin interaction
ENSG00000272918	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000228393	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10238507	0.92[LWK][hapmap]
rs10257135	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap]
rs3779210	0.92[LWK][hapmap];0.81[MKK][hapmap];0.90[YRI][hapmap]
rs3801278	0.96[LWK][hapmap];0.90[YRI][hapmap]
rs3801281	0.90[YRI][hapmap]
rs3801282	0.96[LWK][hapmap];0.85[MKK][hapmap];0.90[YRI][hapmap]
rs4730074	1.00[JPT][hapmap]
rs4730076	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs6466053	0.96[LWK][hapmap];0.85[MKK][hapmap];0.90[YRI][hapmap]
rs6466057	0.96[LWK][hapmap];0.90[YRI][hapmap]
rs7806591	0.90[YRI][hapmap]
rs7809066	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs917114	0.96[LWK][hapmap];0.90[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2385537	ATXN7L1	cis	parietal	SCAN
rs2385537	HSS00387926	cis	multi-tissue	Pritchard
rs2385537	HSS00001518	cis	multi-tissue	Pritchard
rs2385537	MLL5	cis	Liver	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104677800-104758200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:104678000-104812200	Strong transcription	Dnd41	blood
3	chr7:104681200-104758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:104681200-104760400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr7:104685600-104759000	Strong transcription	Primary B cells from peripheral blood	blood
6	chr7:104701400-104758800	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr7:104702800-104758800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:104703600-104759000	Strong transcription	Fetal Intestine Large	intestine
9	chr7:104706000-104760200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:104712400-104758800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:104722200-104759400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr7:104727800-104758200	Strong transcription	Fetal Thymus	thymus
13	chr7:104727800-104759200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:104727800-104759800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:104727800-104760400	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr7:104728000-104760200	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr7:104728200-104758400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:104728200-104758400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr7:104728400-104756800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:104728400-104758400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:104728400-104758400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:104728600-104756000	Strong transcription	Fetal Muscle Trunk	muscle
23	chr7:104737000-104756000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr7:104737000-104757800	Strong transcription	Adipose Nuclei	Adipose
25	chr7:104737800-104758800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:104738600-104758400	Strong transcription	Fetal Lung	lung
27	chr7:104738800-104760200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:104739000-104759200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr7:104739600-104755800	Strong transcription	HepG2	liver
30	chr7:104739800-104755600	Strong transcription	NH-A	brain
31	chr7:104739800-104757800	Strong transcription	HSMM	muscle
32	chr7:104740000-104758400	Strong transcription	NHDF-Ad	bronchial
33	chr7:104740200-104759000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:104740200-104759400	Strong transcription	Primary B cells from cord blood	blood
35	chr7:104740400-104756000	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:104740400-104756200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:104740400-104758200	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:104740400-104759200	Strong transcription	Primary T cells from cord blood	blood
39	chr7:104740400-104787400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:104740600-104756200	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr7:104740800-104756800	Strong transcription	K562	blood
42	chr7:104740800-104758400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr7:104740800-104760200	Strong transcription	HMEC	breast
44	chr7:104741200-104756000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:104741400-104757800	Strong transcription	HUVEC	blood vessel
46	chr7:104741600-104758600	Strong transcription	Placenta	Placenta
47	chr7:104741800-104756400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:104742200-104755600	Strong transcription	Osteobl	bone
49	chr7:104742200-104759800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr7:104742400-104755800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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