Variant report

Variant	rs34094324
Chromosome Location	chr6:4131958-4131959
allele	A/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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:4130992..4133785-chr6:4183388..4185664,2	K562	blood:
2	chr6:4063923..4066758-chr6:4130890..4132765,2	K562	blood:
3	chr6:4113998..4116630-chr6:4130932..4132448,2	K562	blood:
4	chr6:4016355..4024618-chr6:4131840..4138381,21	K562	blood:
5	chr6:4067620..4070166-chr6:4130566..4132778,2	K562	blood:
6	chr6:4017302..4025509-chr6:4131840..4138381,19	K562	blood:
7	chr6:4073031..4076036-chr6:4129401..4132460,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf201-5	chr6:4131253-4134818	NONHSAT107321

No data

Variant related genes	Relation type
ENSG00000112739	Chromatin interaction
ENSG00000272248	Chromatin interaction
ENSG00000230648	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10085196	1.00[EUR][1000 genomes]
rs13205642	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13206444	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13210282	1.00[EUR][1000 genomes]
rs2326407	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34200917	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs608917	0.89[EUR][1000 genomes]
rs622859	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs627902	0.89[EUR][1000 genomes]
rs6597030	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs715165	0.90[EUR][1000 genomes]
rs71553906	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7742642	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs853421	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs853422	0.89[EUR][1000 genomes]
rs9328222	1.00[EUR][1000 genomes]
rs9689605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532020	chr6:3417520-4140257	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1030104	chr6:4062894-4240269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	esv2422231	chr6:4100333-4233454	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
6	esv2422457	chr6:4100333-4377396	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4111000-4134200	Weak transcription	Stomach Mucosa	stomach
2	chr6:4113800-4134600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:4114200-4132200	Strong transcription	Primary T cells from cord blood	blood
4	chr6:4114200-4132800	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr6:4114200-4133400	Strong transcription	Stomach Smooth Muscle	stomach
6	chr6:4114400-4132400	Strong transcription	Fetal Thymus	thymus
7	chr6:4114600-4133600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr6:4114800-4132800	Strong transcription	Duodenum Mucosa	Duodenum
9	chr6:4114800-4133400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr6:4115200-4132000	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr6:4115200-4132000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:4115200-4132600	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr6:4115200-4132800	Strong transcription	Left Ventricle	heart
14	chr6:4115200-4133000	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr6:4115200-4133800	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr6:4115400-4133200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:4115400-4133400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr6:4115400-4133800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr6:4115600-4132200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:4115600-4132200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:4115600-4132600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
22	chr6:4116200-4132000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:4121200-4132000	Strong transcription	Primary hematopoietic stem cells	blood
24	chr6:4121600-4132200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:4121600-4133200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr6:4121800-4132000	Strong transcription	Fetal Muscle Leg	muscle
27	chr6:4121800-4132400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:4122400-4132200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:4122400-4133800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr6:4123800-4133400	Strong transcription	Ovary	ovary
31	chr6:4124200-4133200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr6:4125000-4132200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:4125200-4133400	Strong transcription	Fetal Stomach	stomach
34	chr6:4126000-4132200	Weak transcription	Gastric	stomach
35	chr6:4126400-4132800	Strong transcription	Fetal Kidney	kidney
36	chr6:4126800-4133200	Strong transcription	Adipose Nuclei	Adipose
37	chr6:4126800-4133400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:4127000-4132200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:4127000-4132200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:4127000-4133600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:4127000-4134200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:4127000-4134200	Weak transcription	Aorta	Aorta
43	chr6:4127200-4132200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:4127200-4134200	Weak transcription	HMEC	breast
45	chr6:4127400-4133800	Strong transcription	Colon Smooth Muscle	Colon
46	chr6:4127800-4132800	Strong transcription	Fetal Intestine Large	intestine
47	chr6:4127800-4133000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:4127800-4133800	Strong transcription	A549	lung
49	chr6:4128000-4133800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:4128600-4132800	Strong transcription	NHLF	lung

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