Variant report

Variant	rs6830234
Chromosome Location	chr4:2961091-2961092
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:2948727..2950755-chr4:2959506..2963214,4	K562	blood:
2	chr4:2959980..2962211-chr4:2969909..2971816,3	MCF-7	breast:
3	chr4:2960088..2962960-chr4:3074155..3076323,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125388	Chromatin interaction
ENSG00000251075	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs16843459	1.00[AMR][1000 genomes]
rs16843490	1.00[AMR][1000 genomes]
rs16843682	1.00[AMR][1000 genomes]
rs35304823	1.00[AMR][1000 genomes]
rs35983864	1.00[AMR][1000 genomes]
rs55676948	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55909241	0.84[AFR][1000 genomes]
rs56204916	0.84[AFR][1000 genomes]
rs56315133	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57551202	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57960709	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58112051	0.84[AFR][1000 genomes]
rs58279895	1.00[AMR][1000 genomes]
rs58479563	0.84[AFR][1000 genomes]
rs58555511	0.84[AFR][1000 genomes]
rs58936143	0.84[AFR][1000 genomes]
rs60480235	0.84[AFR][1000 genomes]
rs60514033	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60745500	1.00[AMR][1000 genomes]
rs61377156	0.84[AFR][1000 genomes]
rs61652297	1.00[AMR][1000 genomes]
rs61747144	1.00[AMR][1000 genomes]
rs6837197	0.84[AFR][1000 genomes]
rs6840149	0.84[AFR][1000 genomes]
rs6852880	0.84[AFR][1000 genomes]
rs73792109	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73792110	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73792112	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73792115	1.00[AMR][1000 genomes]
rs73792116	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73792122	0.84[AFR][1000 genomes]
rs73794816	1.00[AMR][1000 genomes]
rs73794824	1.00[AMR][1000 genomes]
rs73794825	1.00[AMR][1000 genomes]
rs73794827	1.00[AMR][1000 genomes]
rs7657843	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7676937	1.00[AMR][1000 genomes]
rs7699427	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv1008436	chr4:2947160-3031195	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv536998	chr4:2947160-3031195	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv593438	chr4:2948456-3030097	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1008527	chr4:2957814-3019042	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1014013	chr4:2959876-3009507	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv536999	chr4:2959876-3009507	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr4:2938200-2962200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:2938400-2962200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:2938600-2961600	Strong transcription	Primary T cells from cord blood	blood
4	chr4:2938600-2961600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:2939000-2961600	Strong transcription	Fetal Stomach	stomach
6	chr4:2939200-2963200	Weak transcription	Fetal Heart	heart
7	chr4:2939400-2962200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:2939600-2961400	Strong transcription	Dnd41	blood
9	chr4:2939600-2961600	Strong transcription	Fetal Thymus	thymus
10	chr4:2940000-2962200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr4:2945400-2961600	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr4:2948800-2963200	Strong transcription	Fetal Intestine Small	intestine
13	chr4:2949000-2961600	Strong transcription	Duodenum Mucosa	Duodenum
14	chr4:2953600-2963200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr4:2954400-2962400	Strong transcription	A549	lung
16	chr4:2956000-2963200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr4:2957600-2961600	Strong transcription	Primary B cells from cord blood	blood
18	chr4:2957600-2961800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr4:2957600-2962200	Strong transcription	Fetal Intestine Large	intestine
20	chr4:2957800-2961600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr4:2958200-2961600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:2958200-2962200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:2958200-2963200	Weak transcription	Stomach Mucosa	stomach
24	chr4:2958400-2963000	Strong transcription	K562	blood
25	chr4:2958400-2963200	Weak transcription	Brain Substantia Nigra	brain
26	chr4:2958400-2963200	Weak transcription	Fetal Brain Male	brain
27	chr4:2958400-2963200	Weak transcription	Fetal Kidney	kidney
28	chr4:2958600-2962400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr4:2958800-2963200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:2958800-2963200	Weak transcription	Colon Smooth Muscle	Colon
31	chr4:2959200-2962600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr4:2959200-2963000	Weak transcription	Brain Germinal Matrix	brain
33	chr4:2959200-2964400	Weak transcription	Aorta	Aorta
34	chr4:2959400-2961600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:2959400-2961600	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr4:2959400-2962000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr4:2959400-2963000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:2959400-2963000	Weak transcription	Pancreas	Pancrea
39	chr4:2959400-2963000	Weak transcription	Small Intestine	intestine
40	chr4:2959400-2963200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr4:2959400-2963600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr4:2959600-2963000	Weak transcription	Brain Anterior Caudate	brain
43	chr4:2959600-2963000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr4:2959600-2963200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:2959600-2963200	Weak transcription	Colonic Mucosa	Colon
46	chr4:2959800-2961400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr4:2959800-2961800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr4:2959800-2963000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr4:2959800-2963200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:2959800-2963200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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