Variant report

Variant	rs6696382
Chromosome Location	chr1:9934531-9934532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:9934500-9934650	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:9932776..9936853-chr1:9938064..9942727,5	K562	blood:
2	chr1:9929847..9932811-chr1:9932993..9937666,4	K562	blood:
3	chr1:9931884..9936639-chr1:9967934..9971147,6	MCF-7	breast:
4	chr1:9934319..9936759-chr1:9936873..9939564,3	K562	blood:

Variant related genes	Relation type
CTNNBIP1	TF binding region
ENSG00000178585	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2379109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6680479	1.00[AMR][1000 genomes]
rs74054134	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer 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	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv871146	chr1:9897001-9951288	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv545380	chr1:9918183-9987007	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking 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	12 gene(s)	inside rSNPs	diseases
7	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9904600-9935000	Weak transcription	Osteobl	bone
2	chr1:9904800-9946000	Weak transcription	Fetal Kidney	kidney
3	chr1:9910000-9935000	Weak transcription	NHLF	lung
4	chr1:9915800-9935200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:9918600-9943800	Weak transcription	Small Intestine	intestine
6	chr1:9920200-9935200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:9921000-9934800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:9921800-9934800	Weak transcription	Right Atrium	heart
9	chr1:9923800-9935200	Weak transcription	A549	lung
10	chr1:9924200-9935200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:9924200-9935200	Weak transcription	Brain Substantia Nigra	brain
12	chr1:9927600-9941800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:9928000-9934800	Weak transcription	Dnd41	blood
14	chr1:9928000-9935000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:9928000-9935000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:9928000-9935200	Weak transcription	GM12878-XiMat	blood
17	chr1:9928400-9935200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:9928400-9938000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:9930200-9941800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:9930400-9934800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:9930400-9935200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:9930600-9935000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:9930800-9934600	Weak transcription	Brain Angular Gyrus	brain
24	chr1:9930800-9942200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:9930800-9949600	Weak transcription	Fetal Lung	lung
26	chr1:9931000-9934800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:9931000-9934800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:9931000-9934800	Weak transcription	Liver	Liver
29	chr1:9931000-9935000	Weak transcription	Primary B cells from cord blood	blood
30	chr1:9931000-9935000	Genic enhancers	Fetal Muscle Trunk	muscle
31	chr1:9931000-9935200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:9931000-9935200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:9931200-9935200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:9931400-9934800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr1:9931400-9934800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:9931600-9934800	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:9931800-9934600	Weak transcription	Brain Anterior Caudate	brain
38	chr1:9931800-9934800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:9931800-9934800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr1:9931800-9934800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:9931800-9935000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:9931800-9935200	Weak transcription	Aorta	Aorta
43	chr1:9931800-9935200	Weak transcription	Pancreas	Pancrea
44	chr1:9932000-9934600	Weak transcription	Left Ventricle	heart
45	chr1:9932000-9934800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:9932000-9934800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:9932000-9935000	Weak transcription	Ovary	ovary
48	chr1:9932000-9942400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:9932200-9934600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr1:9932200-9935000	Weak transcription	Brain Germinal Matrix	brain

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