Variant report

Variant	rs35347055
Chromosome Location	chr7:56104539-56104540
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:56030925..56032633-chr7:56101899..56104592,2	K562	blood:

Variant related genes	Relation type
ENSG00000146729	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10085802	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10241628	1.00[TSI][hapmap]
rs10253539	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253680	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13222682	0.88[TSI][hapmap]
rs13223519	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13229704	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13232704	0.88[EUR][1000 genomes]
rs13233037	0.88[EUR][1000 genomes]
rs13233761	0.84[EUR][1000 genomes]
rs13233834	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13234504	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13237835	0.84[EUR][1000 genomes]
rs13238029	0.92[EUR][1000 genomes]
rs13238083	0.88[EUR][1000 genomes]
rs13238899	1.00[YRI][hapmap]
rs13240361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13241531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13241905	0.84[EUR][1000 genomes]
rs13242099	0.84[EUR][1000 genomes]
rs13245395	0.84[EUR][1000 genomes]
rs13247558	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151447	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013197	0.81[ASN][1000 genomes]
rs2304375	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2331184	1.00[ASN][1000 genomes]
rs33922584	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34023503	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34154824	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34319969	1.00[ASN][1000 genomes]
rs34334997	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34573211	0.96[EUR][1000 genomes]
rs34589483	0.84[EUR][1000 genomes]
rs34822782	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35007015	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35033933	0.92[EUR][1000 genomes]
rs35058595	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35102507	0.92[EUR][1000 genomes]
rs35103810	1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs35136814	0.92[ASN][1000 genomes]
rs35318463	0.84[EUR][1000 genomes]
rs35506072	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35509657	1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs35515485	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35523043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35581685	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35623164	0.84[EUR][1000 genomes]
rs35818005	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35855265	0.84[EUR][1000 genomes]
rs35881493	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36044787	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36049923	1.00[ASN][1000 genomes]
rs36075179	0.84[EUR][1000 genomes]
rs36148650	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778868	1.00[ASN][1000 genomes]
rs3816089	1.00[CHB][hapmap]
rs4307293	1.00[CHB][hapmap]
rs4947531	0.82[ASN][1000 genomes]
rs4948089	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4948101	0.92[ASN][1000 genomes]
rs6962038	1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs71543768	0.84[EUR][1000 genomes]
rs71543774	0.88[EUR][1000 genomes]
rs71543775	0.92[ASN][1000 genomes]
rs71543776	0.89[ASN][1000 genomes]
rs71543777	0.92[ASN][1000 genomes]
rs71543786	0.92[EUR][1000 genomes]
rs73126344	1.00[ASN][1000 genomes]
rs816219	0.83[ASN][1000 genomes]
rs816242	0.96[ASN][1000 genomes]
rs816412	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816413	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816415	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
8	nsv888064	chr7:55831721-56104539	Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
12	nsv970482	chr7:56094574-56104957	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35347055	SUMF2	cis	lymphoblastoid	seeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56102200-56108400	Weak transcription	Aorta	Aorta
2	chr7:56102200-56108600	Weak transcription	Lung	lung
3	chr7:56102200-56114600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:56102200-56117600	Weak transcription	Gastric	stomach
5	chr7:56102200-56117600	Weak transcription	Spleen	Spleen
6	chr7:56102200-56117800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:56102200-56118200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:56102400-56106000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:56102400-56106200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:56102400-56108200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:56102400-56108400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:56102400-56108400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:56102400-56108400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:56102400-56108600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:56102400-56109200	Weak transcription	Fetal Stomach	stomach
16	chr7:56102400-56109400	Weak transcription	Placenta	Placenta
17	chr7:56102400-56109400	Weak transcription	Ovary	ovary
18	chr7:56102400-56110000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:56102400-56110000	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:56102400-56110000	Weak transcription	NHEK	skin
21	chr7:56102400-56110200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:56102400-56114000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:56102400-56114200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:56102400-56114200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:56102400-56114200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr7:56102400-56114200	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:56102400-56114200	Weak transcription	Fetal Lung	lung
28	chr7:56102400-56114200	Weak transcription	HUVEC	blood vessel
29	chr7:56102400-56114200	Weak transcription	K562	blood
30	chr7:56102400-56114200	Weak transcription	Osteobl	bone
31	chr7:56102400-56114600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:56102400-56117600	Weak transcription	Brain Anterior Caudate	brain
33	chr7:56102400-56117600	Weak transcription	GM12878-XiMat	blood
34	chr7:56102400-56117800	Weak transcription	Adipose Nuclei	Adipose
35	chr7:56102400-56117800	Weak transcription	Brain Substantia Nigra	brain
36	chr7:56102400-56118000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:56102400-56118000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:56102400-56118000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:56102400-56118000	Weak transcription	Left Ventricle	heart
40	chr7:56102400-56118000	Weak transcription	HSMMtube	muscle
41	chr7:56102400-56118000	Weak transcription	NHLF	lung
42	chr7:56102400-56118200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr7:56102600-56106200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:56102600-56106200	Weak transcription	A549	lung
45	chr7:56102600-56107000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr7:56102600-56108200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr7:56102600-56108200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:56102600-56108400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:56102600-56108600	Weak transcription	Esophagus	oesophagus
50	chr7:56102600-56109000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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