Variant report

Variant	rs4148249
Chromosome Location	chr6:30558190-30558191
allele	A/C
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30522893..30525762-chr6:30556853..30560646,4	MCF-7	breast:
2	chr6:30545399..30547031-chr6:30557565..30560060,2	MCF-7	breast:
3	chr6:30522833..30525530-chr6:30557492..30560216,3	MCF-7	breast:
4	chr6:30537889..30541896-chr6:30557428..30560514,5	MCF-7	breast:
5	chr6:30467302..30470301-chr6:30557602..30560593,2	K562	blood:
6	chr6:30525960..30527629-chr6:30557632..30560488,2	MCF-7	breast:
7	chr6:30525825..30528060-chr6:30557263..30560368,3	MCF-7	breast:
8	chr6:30557596..30560354-chr6:30710710..30712420,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137331	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000204574	Chromatin interaction
ENSG00000204590	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17875374	1.00[ASN][1000 genomes]
rs3757335	1.00[ASN][1000 genomes]
rs57357873	0.80[AFR][1000 genomes]
rs59350392	0.80[AFR][1000 genomes]
rs61733218	0.86[AFR][1000 genomes]
rs6913164	0.86[AFR][1000 genomes]
rs6919835	0.86[AFR][1000 genomes]
rs73432769	0.90[ASN][1000 genomes]
rs7757145	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7774485	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer 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	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	nsv884091	chr6:30526026-30590646	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	776 gene(s)	inside rSNPs	diseases
8	nsv5244	chr6:30545111-30589803	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	772 gene(s)	inside rSNPs	diseases
9	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 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	chr6:30540200-30582200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:30540200-30582200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:30540400-30563000	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:30540800-30560800	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr6:30540800-30563600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:30540800-30563600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:30540800-30563800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:30541400-30567400	Weak transcription	Fetal Heart	heart
9	chr6:30541600-30563000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr6:30541800-30562800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:30541800-30565200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:30542000-30562800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:30542200-30563200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:30542200-30564000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:30542200-30581800	Weak transcription	Right Atrium	heart
16	chr6:30542600-30558400	Strong transcription	Fetal Thymus	thymus
17	chr6:30542800-30563400	Strong transcription	Fetal Stomach	stomach
18	chr6:30543000-30562800	Strong transcription	Thymus	Thymus
19	chr6:30543200-30558200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:30543200-30560400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr6:30543200-30562800	Strong transcription	Adipose Nuclei	Adipose
22	chr6:30543200-30563000	Strong transcription	Fetal Brain Female	brain
23	chr6:30543200-30563000	Strong transcription	Fetal Muscle Trunk	muscle
24	chr6:30543200-30563000	Strong transcription	Fetal Muscle Leg	muscle
25	chr6:30543200-30563400	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr6:30543200-30563400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:30543200-30563600	Strong transcription	Stomach Smooth Muscle	stomach
28	chr6:30543400-30560600	Strong transcription	Duodenum Mucosa	Duodenum
29	chr6:30543400-30560800	Strong transcription	Brain Hippocampus Middle	brain
30	chr6:30543400-30563000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr6:30543400-30563000	Strong transcription	Primary T cells from cord blood	blood
32	chr6:30543400-30563000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr6:30543400-30563400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:30543600-30562600	Strong transcription	HepG2	liver
35	chr6:30543600-30563000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr6:30543600-30563400	Strong transcription	Dnd41	blood
37	chr6:30543800-30558600	Strong transcription	Fetal Intestine Small	intestine
38	chr6:30543800-30562800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:30543800-30563000	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr6:30543800-30563200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr6:30544200-30558200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:30544200-30558200	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr6:30544200-30560600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr6:30544200-30563000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr6:30544400-30558400	Strong transcription	NH-A	brain
46	chr6:30544400-30559000	Strong transcription	Colon Smooth Muscle	Colon
47	chr6:30544400-30559200	Strong transcription	Right Ventricle	heart
48	chr6:30544400-30559400	Strong transcription	Spleen	Spleen
49	chr6:30544400-30560400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr6:30544400-30560600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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