Variant report

Variant	rs375800812
Chromosome Location	chr6:134268981-134268982
allele	A/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	GATA1	chr6:134268412-134269158	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:134259055..134262632-chr6:134266342..134269518,3	K562	blood:

Variant related genes	Relation type
TBPL1	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34122	chr6:134089019-134378252	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv604701	chr6:134248060-134269657	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3473402	chr6:134267059-134271657	Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	esv3506986	chr6:134268284-134270782	Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	esv3473405	chr6:134268445-134270284	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv511916	chr6:134268592-134269877	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	esv8603	chr6:134268751-134269959	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv1840176	chr6:134268822-134274297	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
9	esv3473400	chr6:134268847-134269829	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	esv3506981	chr6:134268876-134269809	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	esv3506987	chr6:134268880-134269833	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	esv3506989	chr6:134268896-134269766	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	esv3473404	chr6:134268903-134269793	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	esv3473401	chr6:134268903-134269795	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
15	esv3473399	chr6:134268916-134269752	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
16	esv3506982	chr6:134268919-134269775	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
17	esv3506983	chr6:134268933-134269772	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
18	esv3332683	chr6:134268939-134269745	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
19	esv3506984	chr6:134268962-134269726	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
20	esv3473403	chr6:134268962-134269730	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
21	esv3506988	chr6:134268973-134269731	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
22	esv3473406	chr6:134268977-134269729	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
23	esv3506990	chr6:134268977-134269729	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
24	esv15240	chr6:134268981-134269712	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
25	nsv820631	chr6:134268981-134269712	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134266600-134272400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:134266800-134272200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:134267000-134272200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:134267800-134271600	Enhancers	Liver	Liver
5	chr6:134268000-134269000	Enhancers	K562	blood
6	chr6:134268000-134270200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr6:134268000-134270400	Enhancers	Duodenum Mucosa	Duodenum
8	chr6:134268000-134270400	Enhancers	Pancreas	Pancrea
9	chr6:134268200-134269200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:134268200-134269600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:134268200-134270000	Weak transcription	Gastric	stomach
12	chr6:134268200-134270600	Enhancers	Stomach Mucosa	stomach
13	chr6:134268400-134272200	Weak transcription	Aorta	Aorta
14	chr6:134268600-134272400	Weak transcription	Fetal Brain Female	brain

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