Variant report

Variant	rs41264568
Chromosome Location	chr1:173475964-173475965
allele	C/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:173475377..173477317-chr1:173683578..173686265,2	K562	blood:
2	chr1:173446841..173450176-chr1:173473892..173477707,4	K562	blood:
3	chr1:173445583..173448569-chr1:173475814..173478080,2	MCF-7	breast:
4	chr1:173445244..173446787-chr1:173474590..173476613,2	K562	blood:
5	chr1:173474043..173476441-chr1:173505318..173508116,2	K562	blood:
6	chr1:173398704..173399204-chr1:173475323..173476132,2	MCF-7	breast:
7	chr1:173475650..173476359-chr1:173514574..173515395,2	MCF-7	breast:
8	chr1:173444700..173449124-chr1:173472471..173476984,5	MCF-7	breast:
9	chr1:173474657..173477081-chr1:173504747..173506789,2	MCF-7	breast:
10	chr1:173399853..173401103-chr1:173475357..173476671,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000117592	Chromatin interaction
ENSG00000076321	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12739142	0.91[AMR][1000 genomes]
rs12741843	0.91[AMR][1000 genomes]
rs2000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6673879	0.90[AMR][1000 genomes]
rs71637468	0.91[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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173448000-173477000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:173458600-173476600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:173473200-173476200	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:173473200-173476200	Weak transcription	K562	blood
5	chr1:173473200-173476600	Weak transcription	NHDF-Ad	bronchial
6	chr1:173473600-173476600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:173473800-173476600	Enhancers	Hela-S3	cervix
8	chr1:173474000-173476800	Weak transcription	Fetal Brain Female	brain
9	chr1:173474200-173476400	Weak transcription	Fetal Brain Male	brain
10	chr1:173474600-173476200	Enhancers	A549	lung
11	chr1:173474800-173478400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:173475400-173476000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:173475400-173476400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:173475400-173476600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:173475400-173476600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:173475400-173476600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:173475400-173476800	Enhancers	Adipose Nuclei	Adipose
18	chr1:173475400-173477000	Enhancers	Stomach Mucosa	stomach
19	chr1:173475400-173477200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr1:173475400-173477200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr1:173475400-173477200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:173475400-173477200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:173475400-173477200	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr1:173475400-173477800	Enhancers	Stomach Smooth Muscle	stomach
25	chr1:173475400-173477800	Enhancers	HSMMtube	muscle
26	chr1:173475600-173476000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:173475600-173476400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:173475600-173477000	Enhancers	Fetal Intestine Large	intestine
29	chr1:173475600-173477200	Enhancers	Fetal Kidney	kidney
30	chr1:173475600-173477200	Enhancers	HSMM	muscle
31	chr1:173475600-173478400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:173475800-173476600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:173475800-173476800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:173475800-173476800	Weak transcription	Brain Anterior Caudate	brain
35	chr1:173475800-173476800	Weak transcription	Esophagus	oesophagus
36	chr1:173475800-173477200	Enhancers	NHLF	lung

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