Variant report

Variant	rs193004408
Chromosome Location	chr7:139964815-139964816
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:139875131..139877020-chr7:139963347..139967020,3	K562	blood:
2	chr7:139875131..139878552-chr7:139963598..139970685,8	K562	blood:

Variant related genes	Relation type
ENSG00000260231	Chromatin interaction
ENSG00000006459	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889247	chr7:139855216-140033631	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1015840	chr7:139912355-139987681	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1026255	chr7:139944473-140043299	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2761371	chr7:139964350-139979655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139960200-139971000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:139960400-139969200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:139960400-139975200	Weak transcription	Right Atrium	heart
4	chr7:139963600-139967400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:139963800-139966600	Weak transcription	K562	blood
6	chr7:139963800-139967200	Weak transcription	Fetal Thymus	thymus
7	chr7:139963800-139968800	Weak transcription	Thymus	Thymus
8	chr7:139964000-139966600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:139964000-139966600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr7:139964000-139966600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:139964000-139966600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:139964000-139966600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr7:139964000-139967400	Weak transcription	Primary T cells from cord blood	blood
14	chr7:139964000-139967600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:139964200-139969000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:139964200-139969000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr7:139964400-139965400	Enhancers	HepG2	liver
18	chr7:139964400-139966600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr7:139964400-139966600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:139964400-139966600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr7:139964400-139966800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr7:139964400-139967200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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