Variant report

Variant	rs4749964
Chromosome Location	chr10:6131627-6131628
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6130789..6132928-chr10:6134999..6139816,5	MCF-7	breast:
2	chr10:6128377..6132115-chr10:6241834..6247197,6	MCF-7	breast:
3	chr10:6129764..6131854-chr10:6149478..6152087,2	MCF-7	breast:
4	chr10:6018551..6021640-chr10:6130714..6134315,5	MCF-7	breast:
5	chr10:6018064..6019912-chr10:6129955..6132156,2	K562	blood:
6	chr10:6130983..6133585-chr10:6620139..6622430,2	K562	blood:
7	chr10:6129825..6133257-chr10:6241985..6247329,10	MCF-7	breast:
8	chr10:6130591..6133050-chr10:6185385..6187497,2	MCF-7	breast:
9	chr10:6018064..6021783-chr10:6129304..6132316,4	K562	blood:
10	chr10:6131418..6133941-chr10:6140772..6145305,6	K562	blood:
11	chr10:6074070..6077031-chr10:6131328..6132999,2	K562	blood:
12	chr10:6131173..6133943-chr10:6186718..6189110,2	MCF-7	breast:
13	chr10:6129204..6131748-chr10:6244207..6246414,2	K562	blood:
14	chr10:6130589..6132639-chr10:6184439..6189476,5	K562	blood:
15	chr10:6130957..6132763-chr10:6153390..6155892,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213994	Chromatin interaction
ENSG00000065675	Chromatin interaction
ENSG00000170525	Chromatin interaction
ENSG00000134453	Chromatin interaction
ENSG00000134470	Chromatin interaction
ENSG00000237943	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10795823	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11256269	1.00[AMR][1000 genomes]
rs12250725	1.00[AMR][1000 genomes]
rs12260184	1.00[AMR][1000 genomes]
rs12261085	1.00[AMR][1000 genomes]
rs12261535	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12722641	1.00[AMR][1000 genomes]
rs12722663	1.00[AMR][1000 genomes]
rs12722667	1.00[AMR][1000 genomes]
rs12722670	1.00[AMR][1000 genomes]
rs12722674	1.00[AMR][1000 genomes]
rs12722698	1.00[AMR][1000 genomes]
rs4509667	1.00[AMR][1000 genomes]
rs4749956	1.00[AMR][1000 genomes]
rs4749993	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60269484	1.00[AMR][1000 genomes]
rs6602367	1.00[AMR][1000 genomes]
rs7897471	1.00[AMR][1000 genomes]
rs7901642	1.00[AMR][1000 genomes]
rs7907241	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7910558	1.00[AMR][1000 genomes]
rs943123	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv894815	chr10:6108439-6161781	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1040397	chr10:6129759-6158697	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3410151	chr10:6129771-6132319	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 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	chr10:6130200-6132000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr10:6130400-6131800	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr10:6130400-6131800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr10:6130400-6131800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr10:6130400-6131800	Active TSS	NHEK	skin
6	chr10:6130400-6132000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:6130400-6132000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr10:6130400-6132000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr10:6130400-6132000	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr10:6130400-6132000	Active TSS	Fetal Lung	lung
11	chr10:6130400-6132000	Active TSS	K562	blood
12	chr10:6130400-6132000	Active TSS	NH-A	brain
13	chr10:6130400-6132000	Active TSS	NHDF-Ad	bronchial
14	chr10:6130400-6132000	Active TSS	NHLF	lung
15	chr10:6130400-6132200	Active TSS	H1 Cell Line	embryonic stem cell
16	chr10:6130400-6132200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr10:6130400-6132200	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr10:6130400-6132200	Active TSS	Aorta	Aorta
19	chr10:6130400-6132200	Active TSS	GM12878-XiMat	blood
20	chr10:6130400-6132400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr10:6130400-6132400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr10:6130400-6132400	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr10:6130400-6132600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr10:6130400-6132600	Active TSS	Right Atrium	heart
25	chr10:6130400-6132800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr10:6130600-6131800	Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr10:6130600-6131800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr10:6130600-6131800	Active TSS	Brain Angular Gyrus	brain
29	chr10:6130600-6131800	Active TSS	Brain Cingulate Gyrus	brain
30	chr10:6130600-6131800	Active TSS	Brain Substantia Nigra	brain
31	chr10:6130600-6131800	Active TSS	Colonic Mucosa	Colon
32	chr10:6130600-6131800	Active TSS	Colon Smooth Muscle	Colon
33	chr10:6130600-6131800	Active TSS	Duodenum Mucosa	Duodenum
34	chr10:6130600-6131800	Active TSS	Fetal Brain Female	brain
35	chr10:6130600-6131800	Active TSS	Fetal Stomach	stomach
36	chr10:6130600-6131800	Active TSS	Hela-S3	cervix
37	chr10:6130600-6132000	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr10:6130600-6132000	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr10:6130600-6132000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr10:6130600-6132000	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr10:6130600-6132000	Active TSS	Muscle Satellite Cultured Cells	--
42	chr10:6130600-6132000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr10:6130600-6132000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr10:6130600-6132000	Active TSS	Thymus	Thymus
45	chr10:6130600-6132000	Active TSS	HSMMtube	muscle
46	chr10:6130600-6132200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr10:6130600-6132200	Active TSS	Fetal Kidney	kidney
48	chr10:6130600-6132200	Active TSS	Gastric	stomach
49	chr10:6130600-6132400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr10:6130600-6132600	Active TSS	A549	lung

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