Variant report

Variant	rs13230173
Chromosome Location	chr7:139866326-139866327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:139860183..139868734-chr7:139875326..139878447,10	MCF-7	breast:
2	chr7:139865102..139868191-chr7:139872830..139877549,6	MCF-7	breast:
3	chr7:139865506..139868108-chr7:139868959..139871589,2	MCF-7	breast:
4	chr7:139863995..139867130-chr7:139869162..139871896,3	K562	blood:
5	chr7:139854646..139856585-chr7:139865590..139868566,2	K562	blood:
6	chr7:139865240..139866883-chrX:145295496..145297641,2	MCF-7	breast:
7	chr7:139865636..139870331-chr7:139873073..139878458,12	K562	blood:
8	chr7:139862399..139867130-chr7:139868414..139872232,7	K562	blood:
9	chr7:139855085..139857883-chr7:139865590..139868445,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260231	Chromatin interaction
ENSG00000006459	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12703488	1.00[AFR][1000 genomes]
rs13242576	1.00[AFR][1000 genomes]
rs35701071	1.00[AFR][1000 genomes]
rs62490101	1.00[AFR][1000 genomes]
rs8192856	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139809600-139874800	Weak transcription	Brain Hippocampus Middle	brain
2	chr7:139812400-139874600	Weak transcription	Fetal Stomach	stomach
3	chr7:139813000-139870200	Weak transcription	Spleen	Spleen
4	chr7:139820000-139874400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:139831400-139874800	Weak transcription	Thymus	Thymus
6	chr7:139837800-139870400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:139839000-139874400	Weak transcription	Placenta	Placenta
8	chr7:139844800-139870200	Weak transcription	Esophagus	oesophagus
9	chr7:139852400-139870200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:139855600-139870200	Weak transcription	Ovary	ovary
11	chr7:139857400-139870200	Weak transcription	Pancreas	Pancrea
12	chr7:139858600-139870200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:139860200-139866600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:139860600-139869400	Weak transcription	Right Ventricle	heart
15	chr7:139860600-139870200	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:139860800-139874400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:139860800-139874600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:139861200-139866600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr7:139861200-139868000	Weak transcription	Left Ventricle	heart
20	chr7:139861200-139870200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:139861200-139870400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:139861200-139870400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr7:139861200-139870400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr7:139861200-139870600	Weak transcription	Fetal Intestine Large	intestine
25	chr7:139861200-139874800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr7:139862000-139874600	Weak transcription	Fetal Intestine Small	intestine
27	chr7:139862000-139874800	Weak transcription	Right Atrium	heart
28	chr7:139862600-139870200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr7:139863000-139867200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr7:139863200-139871200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:139863400-139869200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr7:139863400-139875200	Weak transcription	Lung	lung
33	chr7:139863600-139872000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr7:139863800-139866600	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr7:139863800-139866800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr7:139863800-139868400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr7:139864000-139866600	Enhancers	NHEK	skin
38	chr7:139864200-139866600	Enhancers	Primary T cells from cord blood	blood
39	chr7:139864200-139866600	Enhancers	Adipose Nuclei	Adipose
40	chr7:139864200-139867200	Enhancers	HepG2	liver
41	chr7:139864200-139870200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:139864200-139872200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr7:139864400-139870800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:139864600-139866600	Enhancers	Liver	Liver
45	chr7:139864600-139866600	Enhancers	HMEC	breast
46	chr7:139864600-139870600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:139864800-139866600	Enhancers	Stomach Mucosa	stomach
48	chr7:139864800-139875200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr7:139865000-139867200	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr7:139865200-139866400	Enhancers	Psoas Muscle	Psoas

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