Variant report

Variant	rs6948276
Chromosome Location	chr7:39606923-39606924
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr7:39605177-39606969	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr7:39606767-39606965	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr7:39604938-39607300	SK-N-SH	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:39604710..39608797-chr7:39663149..39665225,4	K562	blood:
2	chr7:39605618..39607861-chr7:39772706..39774759,2	K562	blood:
3	chr7:39605012..39607338-chr7:39986740..39989686,2	K562	blood:
4	chr7:39605969..39608430-chr7:39663149..39665540,3	K562	blood:
5	chr7:39606078..39608053-chr7:39609216..39613025,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227172	TF binding region
YAE1D1	TF binding region
ENSG00000259826	Chromatin interaction
ENSG00000006451	Chromatin interaction
ENSG00000188185	Chromatin interaction
ENSG00000065883	Chromatin interaction
ENSG00000241127	Chromatin interaction
ENSG00000236015	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17171603	0.81[YRI][hapmap];0.80[AFR][1000 genomes]
rs2329455	0.82[YRI][hapmap]
rs58299139	0.80[AFR][1000 genomes]
rs59071947	0.97[AFR][1000 genomes]
rs6462933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6980317	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73375670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73375695	0.83[AFR][1000 genomes]
rs73377370	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73377373	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7777434	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7785964	0.80[AFR][1000 genomes]
rs7786253	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7802552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9768664	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9770659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1018430	chr7:39455497-39643569	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv970467	chr7:39605971-39615006	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39605000-39607000	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:39605000-39607000	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr7:39605000-39607000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:39605000-39607000	Active TSS	Fetal Kidney	kidney
5	chr7:39605000-39607000	Active TSS	NHDF-Ad	bronchial
6	chr7:39605000-39607200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr7:39605000-39607200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:39605000-39607200	Active TSS	Rectal Smooth Muscle	rectum
9	chr7:39605000-39607400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:39605000-39607600	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr7:39605000-39607600	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr7:39605000-39607600	Active TSS	A549	lung
13	chr7:39605000-39607600	Active TSS	NHLF	lung
14	chr7:39605200-39607000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:39605200-39607000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:39605200-39607000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:39605200-39607000	Active TSS	Fetal Intestine Large	intestine
18	chr7:39605200-39607000	Active TSS	Fetal Intestine Small	intestine
19	chr7:39605200-39607000	Active TSS	Ovary	ovary
20	chr7:39605200-39607000	Active TSS	Right Atrium	heart
21	chr7:39605200-39607000	Active TSS	Right Ventricle	heart
22	chr7:39605200-39607200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr7:39605200-39607200	Active TSS	H1 Cell Line	embryonic stem cell
24	chr7:39605200-39607200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:39605200-39607200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:39605200-39607200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:39605200-39607200	Active TSS	Fetal Muscle Trunk	muscle
28	chr7:39605200-39607200	Active TSS	Psoas Muscle	Psoas
29	chr7:39605200-39607200	Active TSS	Stomach Smooth Muscle	stomach
30	chr7:39605200-39607200	Active TSS	HSMM	muscle
31	chr7:39605200-39607400	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr7:39605400-39607000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:39605400-39607000	Active TSS	Left Ventricle	heart
34	chr7:39605400-39607200	Active TSS	H9 Cell Line	embryonic stem cell
35	chr7:39605400-39607200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:39605400-39607400	Active TSS	HSMMtube	muscle
37	chr7:39605400-39607600	Active TSS	NH-A	brain
38	chr7:39606200-39607000	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr7:39606200-39607000	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr7:39606400-39607000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:39606400-39607000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr7:39606400-39607000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr7:39606400-39607000	Flanking Active TSS	Liver	Liver
44	chr7:39606400-39607000	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr7:39606400-39607000	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr7:39606400-39607000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr7:39606400-39607200	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr7:39606400-39607200	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr7:39606400-39607200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:39606400-39607200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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