Variant report

Variant	rs35244306
Chromosome Location	chr1:173449624-173449625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:173449269-173449631	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:173446081-173449810	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:173447936..173449773-chr1:173832296..173834859,2	K562	blood:
2	chr1:173446841..173450176-chr1:173473892..173477707,4	K562	blood:
3	chr1:173448175..173449804-chr1:173683297..173685231,2	MCF-7	breast:
4	chr1:173443316..173450639-chr1:173791413..173797919,15	K562	blood:
5	chr1:173443428..173450639-chr1:173791407..173797248,10	K562	blood:

No data

Variant related genes	Relation type
PRDX6	TF binding region
ENSG00000117593	Chromatin interaction
ENSG00000076321	Chromatin interaction
ENSG00000270084	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000208317	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16846134	1.00[EUR][1000 genomes]
rs34308867	1.00[AMR][1000 genomes]
rs35224644	1.00[EUR][1000 genomes]
rs73025473	1.00[EUR][1000 genomes]
rs73025474	1.00[EUR][1000 genomes]
rs7512403	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173447600-173450400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:173447600-173450400	Weak transcription	Aorta	Aorta
3	chr1:173447600-173450400	Weak transcription	Gastric	stomach
4	chr1:173447600-173450400	Weak transcription	Spleen	Spleen
5	chr1:173447800-173449800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:173447800-173450200	Weak transcription	Brain Germinal Matrix	brain
7	chr1:173447800-173450400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:173447800-173450400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:173447800-173450400	Weak transcription	Esophagus	oesophagus
10	chr1:173447800-173452800	Weak transcription	Pancreas	Pancrea
11	chr1:173448000-173449800	Weak transcription	Fetal Thymus	thymus
12	chr1:173448000-173450000	Weak transcription	Fetal Brain Female	brain
13	chr1:173448000-173450200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:173448000-173450200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:173448000-173450400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:173448000-173450400	Weak transcription	Left Ventricle	heart
17	chr1:173448000-173450400	Weak transcription	Lung	lung
18	chr1:173448000-173450600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:173448000-173451400	Weak transcription	Colonic Mucosa	Colon
20	chr1:173448000-173477000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:173448200-173450000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:173448200-173450200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:173448200-173450400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr1:173448200-173450400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:173448400-173449800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:173448400-173450000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:173448400-173450600	Weak transcription	Fetal Brain Male	brain
28	chr1:173448600-173450400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:173448600-173459800	Strong transcription	Fetal Muscle Trunk	muscle
30	chr1:173448800-173449800	Genic enhancers	Duodenum Smooth Muscle	Duodenum
31	chr1:173448800-173449800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
32	chr1:173448800-173450400	Weak transcription	Brain Substantia Nigra	brain
33	chr1:173448800-173450600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:173448800-173451600	Genic enhancers	HepG2	liver
35	chr1:173448800-173458200	Strong transcription	Primary B cells from cord blood	blood
36	chr1:173448800-173459400	Weak transcription	Stomach Mucosa	stomach
37	chr1:173448800-173460000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:173449000-173449800	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
39	chr1:173449000-173449800	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:173449000-173450000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr1:173449000-173450200	Weak transcription	Primary T cells from cord blood	blood
42	chr1:173449000-173450200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr1:173449000-173450400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr1:173449000-173450400	Weak transcription	Fetal Intestine Small	intestine
45	chr1:173449000-173450400	Weak transcription	Fetal Stomach	stomach
46	chr1:173449000-173450400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:173449000-173450400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr1:173449000-173450400	Weak transcription	Thymus	Thymus
49	chr1:173449000-173450600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:173449000-173450600	Weak transcription	Placenta Amnion	Placenta Amnion

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