Variant report

Variant	rs6868596
Chromosome Location	chr5:14273740-14273741
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14143458..14145816-chr5:14273707..14276657,3	MCF-7	breast:
2	chr5:14143084..14145343-chr5:14271406..14275667,4	MCF-7	breast:
3	chr5:14273020..14274776-chr5:14278391..14281158,2	MCF-7	breast:
4	chr5:14263429..14265117-chr5:14272580..14275150,2	K562	blood:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10062034	0.83[AMR][1000 genomes]
rs10076925	0.83[AMR][1000 genomes]
rs16903350	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903376	0.84[AFR][1000 genomes]
rs16903399	0.83[AMR][1000 genomes]
rs16903467	0.83[AMR][1000 genomes]
rs2015269	0.83[AMR][1000 genomes]
rs55750919	0.83[AMR][1000 genomes]
rs55754427	0.83[AMR][1000 genomes]
rs55773296	0.83[AMR][1000 genomes]
rs56114434	0.83[AMR][1000 genomes]
rs56141029	0.83[AMR][1000 genomes]
rs56227025	0.83[AMR][1000 genomes]
rs56664186	0.83[AMR][1000 genomes]
rs56712870	0.83[AMR][1000 genomes]
rs57560019	0.83[AMR][1000 genomes]
rs57764801	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57974400	0.83[AMR][1000 genomes]
rs58324829	0.83[AMR][1000 genomes]
rs58443103	0.83[AMR][1000 genomes]
rs58716074	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58897996	0.83[AMR][1000 genomes]
rs59499572	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59853866	0.83[AMR][1000 genomes]
rs60077210	0.83[AMR][1000 genomes]
rs61396062	0.83[AMR][1000 genomes]
rs61509800	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73748806	0.83[AMR][1000 genomes]
rs73748811	0.83[AMR][1000 genomes]
rs73749082	0.83[AMR][1000 genomes]
rs73749083	0.83[AMR][1000 genomes]
rs73749085	0.83[AMR][1000 genomes]
rs73749234	0.83[AMR][1000 genomes]
rs73749235	0.83[AMR][1000 genomes]
rs73751311	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751318	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751322	0.83[AMR][1000 genomes]
rs73751323	0.83[AMR][1000 genomes]
rs73751327	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751329	0.83[AMR][1000 genomes]
rs73751335	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751336	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751337	0.83[AMR][1000 genomes]
rs73751338	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751339	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751340	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751342	0.85[AMR][1000 genomes]
rs7703674	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7705426	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7713114	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7716460	0.83[AMR][1000 genomes]
rs7723309	0.83[AMR][1000 genomes]
rs7724084	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14265200-14293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:14265400-14277200	Weak transcription	Thymus	Thymus
3	chr5:14265400-14284600	Weak transcription	Stomach Mucosa	stomach
4	chr5:14265400-14286600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:14268600-14291000	Weak transcription	Fetal Kidney	kidney
6	chr5:14269200-14280000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:14269200-14286400	Weak transcription	Pancreas	Pancrea
8	chr5:14269200-14286600	Weak transcription	Spleen	Spleen
9	chr5:14269400-14273800	Genic enhancers	HSMM	muscle
10	chr5:14270200-14290800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:14270400-14276200	Weak transcription	Psoas Muscle	Psoas
12	chr5:14270400-14276400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:14270400-14276400	Weak transcription	Left Ventricle	heart
14	chr5:14270400-14277600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:14270400-14278200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:14270400-14279800	Weak transcription	Ovary	ovary
17	chr5:14270400-14280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:14270400-14280400	Weak transcription	Placenta	Placenta
19	chr5:14270400-14280400	Weak transcription	Fetal Thymus	thymus
20	chr5:14270400-14280600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr5:14270400-14280600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr5:14270400-14280600	Weak transcription	Lung	lung
23	chr5:14270400-14283200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:14270400-14284400	Weak transcription	Colonic Mucosa	Colon
25	chr5:14270400-14284600	Weak transcription	Brain Germinal Matrix	brain
26	chr5:14270400-14284800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr5:14270400-14284800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:14270400-14286400	Weak transcription	Fetal Intestine Small	intestine
29	chr5:14270400-14286800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:14270400-14288800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:14270400-14289400	Weak transcription	Gastric	stomach
32	chr5:14270400-14293000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:14270400-14305200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:14270400-14313600	Weak transcription	Small Intestine	intestine
35	chr5:14270600-14274600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:14270600-14279800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:14270800-14274600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:14270800-14276200	Weak transcription	Brain Anterior Caudate	brain
39	chr5:14270800-14276200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr5:14270800-14276600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr5:14270800-14276800	Weak transcription	Fetal Brain Female	brain
42	chr5:14270800-14277400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:14270800-14279800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr5:14270800-14280200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:14270800-14280200	Weak transcription	Fetal Lung	lung
46	chr5:14270800-14280200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr5:14270800-14280400	Weak transcription	Fetal Muscle Leg	muscle
48	chr5:14270800-14280600	Weak transcription	Fetal Intestine Large	intestine
49	chr5:14270800-14281400	Weak transcription	Fetal Stomach	stomach
50	chr5:14270800-14282000	Weak transcription	Placenta Amnion	Placenta Amnion

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