Variant report

Variant	rs4947325
Chromosome Location	chr6:31528174-31528175
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31526355..31528515-chr6:31586962..31589786,2	K562	blood:
2	chr6:31527419..31530121-chr6:31566009..31569893,3	K562	blood:
3	chr6:31507117..31518882-chr6:31523749..31531427,29	K562	blood:
4	chr6:31524537..31528500-chr6:31546996..31550457,4	MCF-7	breast:
5	chr6:31526758..31532788-chr6:31533564..31537563,8	K562	blood:
6	chr6:31521753..31524731-chr6:31526185..31529000,3	MCF-7	breast:
7	chr6:31526030..31528737-chr6:31571873..31573959,2	K562	blood:
8	chr6:31525235..31529478-chr6:31547066..31550176,3	K562	blood:
9	chr6:31515398..31518438-chr6:31524166..31528358,3	MCF-7	breast:
10	chr6:31527292..31529863-chr6:31532390..31534535,2	MCF-7	breast:
11	chr6:31520347..31523947-chr6:31524604..31528715,4	K562	blood:
12	chr6:31526758..31530982-chr6:31533053..31538001,9	K562	blood:
13	chr6:31526621..31528420-chr6:31621299..31623673,2	K562	blood:
14	chr6:31527769..31531613-chr6:31630147..31633759,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000204498	Chromatin interaction
ENSG00000204435	Chromatin interaction
ENSG00000234006	Chromatin interaction
ENSG00000254870	Chromatin interaction
ENSG00000227507	Chromatin interaction
ENSG00000201207	Chromatin interaction
ENSG00000265236	Chromatin interaction
ENSG00000204438	Chromatin interaction
ENSG00000204444	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000213760	Chromatin interaction
ENSG00000198563	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2229699	0.83[AMR][1000 genomes]
rs4647174	1.00[AMR][1000 genomes]
rs769176	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
2	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
3	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases
4	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
5	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
6	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
7	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
8	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	378 gene(s)	inside rSNPs	diseases
9	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
10	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
11	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
12	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
13	esv2757162	chr6:31353329-31542308	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
14	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
15	nsv432877	chr6:31412961-31528690	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
16	nsv830627	chr6:31496214-31659950	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
17	nsv470809	chr6:31496915-31544189	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
18	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
19	nsv462870	chr6:31528130-31544189	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
20	nsv601941	chr6:31528130-31544189	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31516000-31535800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:31516400-31533200	Weak transcription	Fetal Brain Male	brain
3	chr6:31516600-31529200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:31516800-31530800	Weak transcription	Stomach Mucosa	stomach
5	chr6:31516800-31531000	Weak transcription	Fetal Kidney	kidney
6	chr6:31521000-31529200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:31523800-31528200	Strong transcription	Pancreas	Pancrea
8	chr6:31523800-31529000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:31523800-31529000	Strong transcription	Dnd41	blood
10	chr6:31523800-31529200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr6:31523800-31529400	Strong transcription	Brain Germinal Matrix	brain
12	chr6:31524000-31528600	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr6:31524200-31529200	Strong transcription	Fetal Brain Female	brain
14	chr6:31525200-31528200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:31525200-31528400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:31525200-31528400	Strong transcription	Brain Substantia Nigra	brain
17	chr6:31525200-31529000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr6:31525200-31529200	Genic enhancers	Fetal Muscle Leg	muscle
19	chr6:31525400-31528200	Genic enhancers	Placenta	Placenta
20	chr6:31525400-31528400	Genic enhancers	Liver	Liver
21	chr6:31525400-31528400	Genic enhancers	Fetal Muscle Trunk	muscle
22	chr6:31525400-31528600	Genic enhancers	Left Ventricle	heart
23	chr6:31525400-31529000	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr6:31525400-31529000	Enhancers	Right Atrium	heart
25	chr6:31525400-31529200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
26	chr6:31525600-31528400	Genic enhancers	Colonic Mucosa	Colon
27	chr6:31525600-31529000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr6:31525800-31529200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:31526000-31528400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr6:31526000-31528400	Genic enhancers	Right Ventricle	heart
31	chr6:31526000-31528600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:31526000-31528600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr6:31526000-31529000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:31526000-31529200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:31526000-31529200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:31526200-31528200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:31526200-31528400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr6:31526200-31528400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr6:31526200-31528600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
40	chr6:31526200-31528800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:31526200-31529000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:31526200-31529000	Enhancers	NH-A	brain
43	chr6:31526200-31529000	Enhancers	NHDF-Ad	bronchial
44	chr6:31526200-31529200	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr6:31526400-31528200	Genic enhancers	A549	lung
46	chr6:31526400-31528600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:31526400-31529000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:31526400-31529000	Enhancers	HSMMtube	muscle
49	chr6:31526400-31529400	Strong transcription	Fetal Stomach	stomach
50	chr6:31526400-31532600	Weak transcription	Fetal Lung	lung

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